Archive for February, 2012

In research that could have far-reaching implications for female fertility, U.S. scientists have isolated stem cells from human ovarian tissue that give rise to what appear to be normal egg cells.

The finding, published Sunday in the journal Nature Medicine, builds on earlier landmark papers by the Boston researchers, which suggest that female mammals continue producing egg cells, known as oocytes, into adulthood.

Since 2004, the scientists at Massachusetts General Hospital have produced a series of papers based on work in laboratory mice, which challenge the long-held belief that female mammals are born with a finite number of eggs that run out at a certain point in the life cycle.

The team was able to isolate stem cells from ovarian tissue taken from mice, from which they grew fully functional egg cells in the lab, which could then be fertilized and even produce healthy offspring.

"The primary objective of the current study was to prove that oocyte-producing stem cells do, in fact, exist in the ovaries of women during reproductive life, which we feel this study demonstrates very clearly," said lead author Jonathan Tilly, director of the Vincent Center for Reproductive Biology at Massachusetts General.

In their experiments, the team isolated the stem cells from ovarian tissue that had been removed from women in their 20s and early 30s.

When put in culture dishes in the lab, these stem cells gave rise to cells with the characteristic features of oocytes, including the physical appearance and gene expression patterns of those seen inside human ovaries.

"They spontaneously generate eggs in the dish," Tilly said in a phone interview, noting that they proliferate so well that a small number of stem cells could easily spawn a million egg cells in the lab.

The researchers next took stem cells they had genetically manipulated to glow green and injected them into snippets of human ovarian tissue. These prepared tissue bits were then grafted beneath the skin of specially bred mice, which have no immune system that can cause rejection of human tissue.

Within two weeks, researchers discovered the implanted ovarian tissue in the mice contained numerous immature human follicles with egg cells that originated from the injected stem cells. Follicles are small sacs within the ovary which contain maturing eggs.

Tilly said they knew the eggs cells had arisen from the injected stem cells "because they were all green."

Among the many potential clinical applications the researchers are exploring is whether these stem cells could produce oocytes that could play a role in in-vitro fertilization, as well as other applications to improve the outcomes of IVF and other infertility treatments.

"Can we use these cells for fertility reasons to maximize the opportunity for patients who are experiencing infertility to have different options available to them to have a genetically matched child?" asked Tilly.

"I think it's a fairly good possibility that at some point in the not-too-distant future there will be clinical protocols developed using some aspect of these cells or their properties that will have a significant impact on human reproduction."

Among them is the idea of extracting structures responsible for energy production in cells — called mitochondria — from the stem cells and injecting them into a woman's eggs at the time of in-vitro fertilization, with the hope of boosting the chances of conception and a successful birth.

But Tilly said another idea is to see whether these ovarian stem cells could be used to delay menopause — and the myriad health effects that can develop as women age.

"I've always been intrigued by the prospects of what if you could slow the rate at which the egg cell pool goes away and end up keeping an ovary functioning long past its normal time of failure," he said.

"With these egg stem cells, it raises the prospect that by harnessing the power of those cells, perhaps we can control the rate at which that precious reserve of egg cells is depleted and maybe even delay it ... And if you could achieve that, what would happen? Would we truly see a benefit or would there be unforeseen bad effects?"

More than a decade ago, Tilly's lab created a mouse through genetic manipulation that did not experience ovarian failure with age and was able to maintain an adequate reservoir of eggs.

"So it didn't undergo the equivalent of menopause," he said, or "mouseopause" as the scientists have dubbed it.

While normal mice as they reach old age experience health problems similar to those of postmenopausal women — including declining eyesight and hearing, hair loss, osteoporosis, diminished cognitive function and reduced muscle mass — these genetically modified mice did not. Nor did they have an increased risk of cancer.

So could these stem cells one day be used as the basis for an anti-aging treatment?

"There would be some pretty significant health benefits that would come out of it," said Tilly, if that were the case.

Even though every aspect of the human oocyte-producing stem cells have so far matched what the researchers have found in their mouse equivalents, Tilly conceded that "mouse is mouse — and perhaps human will be different."

"We don't know" if eggs generated from human ovarian stem cells will be normal and healthy, he said. "We will have to be very careful if and when we get to that stage."

Read this article:
Human ovarian stem cells may hold promise for treating infertility: study

February 26, 2012, 6:47 PM EST

By Ryan Flinn

Feb. 26 (Bloomberg) -- Stem cells taken from human ovaries can produce normal, healthy eggs, scientists demonstrated for the first time in an experiment that may lead to new methods to help infertile women.

The finding challenges a belief that women have a fixed number of eggs, or oocytes, from birth that are depleted by the time of menopause, and that their ovaries can't make make more. The research, led by Jonathan Tilly, director of Harvard University-affiliated Massachusetts General Hospital’s Vincent Center for Reproductive Biology, is published today in the journal Nature Medicine.

In 2004, Tilly discovered that ovarian stem cells in mice can create new eggs, similar to how stem cells in male testes produce sperm throughout a man’s life. The latest study proves the same is true in human ovaries, and may point to new ways to overcome infertility or preserve fertility by delaying the time when a woman’s ovaries stop functioning, he said.

“The 50-year-old belief in our field wasn’t actually based on data proving it was impossible, or not ongoing, it was simply an assumption made because there was no evidence indicating otherwise,” Tilly said in a telephone interview. “We have human cells that can produce new oocytes.”

A female is most endowed with oocytes as a fetus, when she has about 7 million. That number that drops to 1 million by birth, and around 300,000 by puberty. By menopause, the number is zero. Since the 1950’s, scientists thought that ovarian stem cells capable of producing new eggs are only active during fetal development.

Ovarian Stem Cells

In the study, healthy ovaries were obtained from consenting patients undergoing sex reassignment surgery. The researchers were able to identify ovarian stem cells because they express a rare protein that’s only seen in reproductive cells.

The stem cells from the ovaries were injected into human ovarian tissue that was then grafted under the skin of mice, which provided the blood supply that enabled the cells to grow. Within two weeks, early stage human follicles with oocytes had begun to form.

“This paper essentially opens the door to the ability to control oocyte development in human ovaries,” Tilly said.

About 10 percent of women of child-bearing age in the U.S., or 6.1 million, have difficulty getting pregnant or staying pregnant, according to the Centers for Disease Control and Prevention. Most cases of female infertility are caused by problems with ovulation, hormone imbalance or age.

Infertility Treatments

Infertility in women is now treated through drugs, surgery, artificial insemination or assisted reproductive technology, in which the woman’s eggs are mixed with sperm outside the body, then reinserted.

The study offers “a new model system for understanding the human egg cell,” according to David F. Albertini, director of the Center for Reproductive Services and professor in the department of molecular and integrative physiology at Kansas University. Still, “there’s a long way to go before this has real practical applications,” he said.

“I’ve spent 35 years of my life studying egg cells and this is a cell that is at least as complicated as a neuron in the brain, if not more,” Albertini said in an interview. “You will need to establish reproducibility from one lab to the next, and hopefully others will be able to confirm his work and extend it, make it into something that will make us confident that the cells are safe to use and we could actually use them to repopulate an egg-depleted ovary.”

New Therapies

The research is opening other therapeutic avenues in fertility treatment, Tilly said.

His team is exploring the development of a bank for ovarian stem cells, which can be cryogenically frozen and thawed without damage, unlike human oocytes. The researchers are also working to identify hormones and other growth factors for accelerating the production of eggs from human ovarian stem cells and ways to improve in-vitro fertilization.

“The problem we face with IVF is we don’t have many eggs to work with,” he said. “These cells are renewable. If we are successful -- and it’s a big if -- in generating functioning eggs from these cells, we can generate as many eggs as we need to on a per patient basis.”

Tilly is also collaborating with researchers at the University of Edinburgh in the U.K. to determine whether the oocytes can be developed into fully mature human eggs for fertilizing. The U.S bans creating or fertilizing embryos for experimental purposes, he said.

A company Tilly co-founded, Boston-based OvaScience Inc., has licensed the technology for potential commercial applications.

--With assistance from Sarah Frier in New York. Editors: Angela Zimm, Andrew Pollack

To contact the reporter on this story: Ryan Flinn in San Francisco at rflinn@bloomberg.net

To contact the editor responsible for this story: Reg Gale at rgale5@bloomberg.net

See the original post here:
Ovarian Stem Cells Produce Eggs in Method That May Aid Fertility

By Ryan Flinn - Sun Feb 26 18:00:00 GMT 2012

Stem cells taken from human ovaries can produce normal, healthy eggs, scientists demonstrated for the first time in an experiment that may lead to new methods to help infertile women.

Woman have a fixed number of eggs from birth that are depleted by the time of menopause. The finding, published today in the journal Nature Medicine, challenges the belief that their ovaries can't make make more. The research was led by Jonathan Tilly, director of Massachusetts General Hospital’s Vincent Center for Reproductive Biology.

Tilly discovered in 2004 that ovarian stem cells in mice create new eggs, or oocytes, in a manner that's similar to how stem cells in male testes produce sperm throughout a man’s life. The latest study proves the same is true in human ovaries, and may point to new ways to overcome infertility or preserve fertility by delaying when a woman’s ovaries stop functioning, Tilly said in a telephone interview.

“The 50-year-old belief in our field wasn’t actually based on data proving it was impossible, or not ongoing, it was simply an assumption made because there was no evidence indicating otherwise,” Tilly said. “We have human cells that can produce new oocytes.”

A female is most endowed with oocytes as a fetus, when she has about 7 million. That number that drops to 1 million by birth, and around 300,000 by puberty. By menopause, the number is zero. Since the 1950’s, scientists thought that ovarian stem cells capable of producing new eggs are only active during fetal development.

Ovarian Stem Cells

In the study, healthy ovaries were obtained from consenting patients undergoing sex reassignment surgery. The researchers were able to identify ovarian stem cells because they express a rare protein that’s only seen in reproductive cells.

The stem cells from the ovaries were injected into human ovarian tissue that was then grafted under the skin of mice, which provided the blood supply that enabled the cells to grow. Within two weeks, early stage human follicles with oocytes had begun to form.

“This paper essentially opens the door to the ability to control oocyte development in human ovaries,” Tilly said.

About 10 percent of women of child-bearing age in the U.S., or 6.1 million, have difficulty getting pregnant or staying pregnant, according to the Centers for Disease Control and Prevention. Most cases of female infertility are caused by problems with ovulation, hormone imbalance or age.

Infertility Treatments

Infertility in women is now treated through drugs, surgery, artificial insemination or assisted reproductive technology, in which the woman’s eggs are mixed with sperm outside the body, then reinserted.

The study offers “a new model system for understanding the human egg cell,” according to David F. Albertini, director of the Center for Reproductive Services and professor in the department of molecular and integrative physiology at Kansas University. Still, “there’s a long way to go before this has real practical applications,” he said.

“I’ve spent 35 years of my life studying egg cells and this is a cell that is at least as complicated as a neuron in the brain, if not more,” Albertini said in an interview. “You will need to establish reproducibility from one lab to the next, and hopefully others will be able to confirm his work and extend it, make it into something that will make us confident that the cells are safe to use and we could actually use them to repopulate an egg-depleted ovary.”

New Therapies

The research is opening other therapeutic avenues in fertility treatment, Tilly said.

His team is exploring the development of a bank for ovarian stem cells, which can be cryogenically frozen and thawed without damage, unlike human oocytes. The researchers are also working to identify hormones and other growth factors for accelerating the production of eggs from human ovarian stem cells and ways to improve in-vitro fertilization.

“The problem we face with IVF is we don’t have many eggs to work with,” he said. “These cells are renewable. If we are successful -- and it’s a big if -- in generating functioning eggs from these cells, we can generate as many eggs as we need to on a per patient basis.”

Tilly is also collaborating with researchers at the University of Edinburgh in the U.K. to determine whether the oocytes can be developed into fully mature human eggs for fertilizing. The U.S bans creating or fertilizing embryos for experimental purposes, he said.

A company Tilly co-founded, Boston-based OvaScience Inc., has licensed the technology for potential commercial applications.

To contact the reporter on this story: Ryan Flinn in San Francisco at rflinn@bloomberg.net

To contact the editor responsible for this story: Reg Gale at rgale5@bloomberg.net

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Ovarian Stem Cells Produce Eggs in Method That May Aid Fertility Therapy

Public release date: 26-Feb-2012
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Contact: Aileen Sheehy
press.office@sanger.ac.uk
44-122-349-6928
Wellcome Trust Sanger Institute

Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that allows prenatal diagnosis and genetic counselling in affected families.

The team used genetic sequencing to discover that TAR results from low levels of the protein called Y14. They found that the syndrome occurs by a unique inherited mechanism.

Platelets are the second most abundant cell in the blood. Their main task is to survey the blood vessel wall for damage and to plug and repair it where required. Some people are born with low numbers of platelets and these rare conditions are thought to be inherited. TAR syndrome combines the unique features of low platelet count and prominent bleeding, especially in infancy, and skeletal abnormalities affecting the upper limb ranging from absence of the radial bone in the forearm to virtually total absence of upper limb. The genetic basis of TAR syndrome has eluded researchers for 50 years.

"Without the use of modern genomics technologies, the discovery of this unexpected mechanism of disease inheritance would have been much more difficult", said Dr Cornelis Albers, from the Sanger Institute and the University of Cambridge. "To achieve our latest findings, we deciphered about 40 million letters of genetic code in five patients."

Many people with TAR were known to have a deletion in one copy of chromosome 1, but this was thought not to be the whole story because parents who carry the same deletion are not suffering from TAR: other variants had to be involved. The team sequenced the genomes of people affected by the disorder who also carried the deletion and discovered that the vast majority of them had one of two variants of a gene called RBM8A. They found that when the genetic deletion and one of the variants are co-inherited by a child, TAR results.

RBM8A controls the production of the protein Y14. They found that the combination of the genetic deletion of one copy of the RBM8A gene and the variants on the other copy greatly reduces the level of Y14. The team concluded that it is low levels of Y14 that affect platelet formation and cause TAR disorder.

"The lack of production of adequate amounts of the protein Y14 in TAR patients only seems to effect the formation of platelets but not of other blood cells." said Dr Cedric Ghevaert from the University of Cambridge. "We have shed some light on how some inherited disorders can present with such striking features associating seemingly unconnected characteristics such as skeletal and blood defects"

This is the first human disorder identified to be caused by a presumed defect of the Exon Junction Complex, part of the cellular machinery that contributes to producing messages that direct protein production. This study opens the path that could lead to the identification of the genetic basis of other similar inherited syndromes, which will help improvements in diagnosis, genetic counselling and patient care in the NHS and beyond.

"The discovery of the gene for TAR will make it simpler to diagnose more accurately future cases with a simple DNA test. This new test is currently being developed for the NHS as part of the international ThromboGenomics initiative led by Professor Ouwehand" commented Dr Ruth Newbury-Ecob, Honorary Reader in Medical Genetics and Consultant in Clinical Genetics at the University of Bristol Hospitals.

###

Notes to Editors

The findings were made following a collaborative study by the NHS Blood and Transplant platelet research team at the University of Cambridge and the Wellcome Trust Sanger Institute, which is led by Dr Cedric Ghevaert and Professor Willem Ouwehand. The Cambridge researchers joined forces with Dr Ruth Newbury-Ecob from the University of Bristol and worked together with various other European research partners from Belgium, France, Germany and the Netherlands.

Publication

Nature Genetics website, 26 February 2012
Albers et al 'Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome' DOI 10.1038/ng.1083

Funding

The platelet research team in Cambridge is supported by the British Heart Foundation, the European Commission, the National Institute for Health Research for England (NIHR), NHS Blood and Transplant and the Wellcome Trust.

Dr Cedric Ghevaert and Prof Willem Ouwehand are also consultant Haematologists for NHS Blood and Transplant (NHSBT). NHSBT collects blood and platelets from non-remunerated volunteer donors. Every day about 8,000 units of blood are needed by the NHS and 1100 platelet concentrates. For the latter about 600 donors attend a special clinic at which platelets are harvested from the blood of the donor by a process called apheresis.

The National Institute for Health Research (NIHR) http://www.nihr.ac.uk) is the major governmental fund provider for clinical translational research in the NHS. The mission of the NIHR is to maintain a health research system in which the NHS supports outstanding individuals, working in world-class facilities, conducting leading-edge research, focussed on the needs of patients and the public.

The Wellcome Trust is a global charity dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests. http://www.wellcome.ac.uk

The Wellcome Trust Sanger Institute, which receives the majority of its funding from the Wellcome Trust, was founded in 1992. The Institute is responsible for the completion of the sequence of approximately one-third of the human genome as well as genomes of model organisms and more than 90 pathogen genomes. In October 2006, new funding was awarded by the Wellcome Trust to exploit the wealth of genome data now available to answer important questions about health and disease. http://www.sanger.ac.uk

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AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

See the rest here:
Elusive platelet count and limb development gene discovered

Cambridge researchers have identified an elusive gene responsible for a rare inherited blood and skeletal disorder – Thrombocytopenia with Absent Radii (TAR).

The research is now being transformed into a medical test that allows prenatal diagnosis and genetic counselling in affected families.

The team used genetic sequencing to discover that TAR results from low levels of the protein called Y14. They found that the syndrome occurs by a unique inherited mechanism.

Platelets are the second most abundant cell in the blood. Their main task is to survey the blood vessel wall for damage and to plug and repair it where required.

Some people are born with low numbers of platelets and these rare conditions are thought to be inherited. TAR syndrome combines the unique features of low platelet count and prominent bleeding, especially in infancy, and skeletal abnormalities affecting the upper limb ranging from absence of the radial bone in the forearm to virtually total absence of upper limb. The genetic basis of TAR syndrome has eluded researchers for 50 years.

“Without the use of modern genomics technologies, the discovery of this unexpected mechanism of disease inheritance would have been much more difficult,” said Dr Cornelis Albers, from the Sanger Institute and the University of Cambridge.

“To achieve our latest findings, we deciphered about 40 million letters of genetic code in five patients.”

Many people with TAR were known to have a deletion in one copy of chromosome 1, but this was thought not to be the whole story because parents who carry the same deletion do not suffer from TAR: other variants had to be involved.

The team sequenced the genomes of people affected by the disorder who also carried the deletion and discovered that the vast majority of them had one of two variants of a gene called RBM8A. They found that when the genetic deletion and one of the variants are co-inherited by a child, TAR results.

RBM8A controls the production of the protein Y14. They found that the combination of the genetic deletion of one copy of the RBM8A gene and the variants on the other copy greatly reduces the level of Y14. The team concluded that it is low levels of Y14 that affect platelet formation and cause TAR disorder.

“The lack of production of adequate amounts of the protein Y14 in TAR patients only seems to affect the formation of platelets but not of other blood cells.” said Dr Cedric Ghevaert from the University of Cambridge.

“We have shed some light on how some inherited disorders can present with such striking features associating seemingly unconnected characteristics such as skeletal and blood defects.”

This is the first human disorder identified to be caused by a presumed defect of the Exon Junction Complex, part of the cellular machinery that contributes to producing messages that direct protein production.

This study opens the path that could lead to the identification of the genetic basis of other similar inherited syndromes, which will help improvements in diagnosis, genetic counselling and patient care in the NHS and beyond.

The findings were made following a collaborative study by the NHS Blood and Transplant platelet research team at the University of Cambridge and the Wellcome Trust Sanger Institute, which is led by Dr Cedric Ghevaert and Professor Willem Ouwehand.

The Cambridge researchers joined forces with Dr Ruth Newbury-Ecob from the University of Bristol and worked together with various other European research partners from Belgium, France, Germany and the Netherlands.

The platelet research team in Cambridge is supported by the British Heart Foundation, the European Commission, the National Institute for Health Research for England (NIHR), NHS Blood and Transplant and the Wellcome Trust.

Read more:
Elusive gene discovered by research team

Home > News > india-news

Kochi, Feb 25: In the wake of Prime Minister Manmohan Singh questioning the role of foreign-aided NGOs in opposing use of genetic engineering, union Rural Development Minister Jairam Ramesh Saturday stressed that the decision to stay commercial use of Bt. Brinjal was not influenced by any NGO.

Answering queries from media persons on his visit here, Ramesh said his decision on Bt Brinjal was based on wide consultations with stakeholders, adding that the use of bio-technology for the crop to be consumed by humans needed to be carefully evaluated.

"No NGO influenced my decision," said Ramesh, who had decided to put on hold the commercial release of the Bt. Brinjal in February 2010 when he was union environment minister.

Ramesh's remarks assume significance in the wake of prime minister's interview to a science journal saying that India must make use of genetic engineering technology to increase agricultural productivity, and NGOs funded by the US and Scandinavian countries were not fully appreciative of the country's development challenges.

Ramesh said that the decision to put a moratorium on the commercial release of Bt. Brinjal was taken after seven months of consultations with the public, various stakeholders including the states, farmers and NGOs. He said he had written on the issue to the chief ministers of all states.

Bio-technology in agriculture was not merely a scientific issue but "political issue" as it affects human safety, he said.

Referring to his decision on Bt Brinjal, Ramesh said Greenpeace had accused him of propagating the line of genetic engineering firm Monsanto during a public hearing in Bangalore.

"So on Bt Brinjal, since I was directly involved, I can confidently say no NGOs influenced my views," he said.

The minister said that there was no scientific consensus on Bt. Brinjal, the full protocol on the test has not been completed and there was no independent professional mechanism to instil confidence in the public.

"I did not ban Bt Brinjal. I decided lets put moratorium (on it)," Ramesh said and added he could not have ignored opinion of chief ministers who opposed it.

Gujarat Chief Minister Narendra Modi, who supports Bt Cotton, did not support the move on Bt Brinjal, he noted.

"I cannot ignore states. Ultimately in agriculture, we have to take states along with us," he said. (IANS)

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Decision on Bt. Brinjal not influenced by NGOs: Jairam

The latest discoveries and promises of stem cell research and the development of new therapeutic approaches for a variety of diseases will be in focus at the Qatar International Conference on Stem Cell Science and Policy 2012 which begins today.
The four-day event, being held at Qatar National Convention Centre, is a milestone in Qatar Foundation???s ongoing collaboration with the James A Baker III Institute for Public Policy at Rice University, Houston, Texas, US.
The aim of QF???s joint initiative with the Baker Institute???s International Programme on Stem Cell Science Policy is to develop stem cell research in Qatar as well as to find ways to address the shared challenges of community support for stem cell research in Doha and Houston.
To accomplish this goal, the programme has supported several events since its inception, including meetings, workshops, and training programmes in both cities.
The conference, which brings together eminent international as well as regional scientists, ethicists and policymakers, will also present the developed policy options that account for cultural, ethical and religious factors.
The event will draw attention to Qatar???s position in the development of stem cell research in the region and the world, given that research on stem cell as a national priority has already been initiated in the country???s best research institutions.
The conference objectives are to raise the awareness about Qatar???s initiative in promoting stem cell research, present the latest developments, and highlight the different religious views regarding stem cell research specifically the Islamic view.
The pros and cons of various options for regulating stem cell research and how scientists should address conflicting and confusing national policies and assess the different models of international collaboration will be discussed.
The conference also intends to interface with other institutions outside Qatar and contribute to the exchange of scientific knowledge to enhance the promotion of a scientific culture in the region and globally.
The keynote speakers are ambassador Edward P Djerejian (Baker Institute), Irving Weissman (Stanford University), Alan Trounson (president, California Institute for Regenerative Medicine), David Baltimore (president emeritus, Robert Andrews Millikan Professor of Biology, California Institute of Technology), Roger Pedersen (Department of Surgery, University of Cambridge) and Lawrence Corey (president and director, Fred Hutchinson Cancer Research Centre).
The conference, supported by Qatar Biomedical Research Institute, will also feature a number of invited speakers from across the world.

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Seminar to focus on stem cell research development

By Carolyn Y. Johnson, Globe Staff

Massachusetts General Hospital researchers reported today they have discovered a rare stem cell in women???s ovaries that they hope one day might be used to make eggs, a claim already generating vigorous debate among scientists familiar with the research.

For decades, it has been thought that women are born with a finite supply of eggs, limiting their reproductive years. Doctors have sought ways of extending the fertility of women, especially as many wait later in life to begin having children.

The research, led by Jonathan Tilly of Mass. General and appearing in the journal Nature Medicine, opens the door to the possibility of taking tissue from a woman???s ovaries, harvesting stem cells from that tissue, and then creating eggs.

But scientists not involved with the Mass. General research said such an approach -- if it is even possible -- sits far in the future and will require considerably more work. Several scientists said Tilly, who co-founded a company focused on developing novel infertility treatments, had not yet made a convincing case that the stem cells he discovered can yield viable eggs, a critical first step.

Tilly has been a lightning rod in the field of fertility medicine since 2004, when he challenged the orthodoxy that women do not produce new eggs. In a research paper published that year, Tilly laid the foundation for the findings reported yesterday.

???There was a lot of backlash. It wasn???t surprising, given the magnitude of the paradigm shift that was being proposed -- this was one of the fundamental beliefs in our field,?? Tilly said. ???The subsequent eight years have been a long haul.??

In his new study, Tilly extended research by Chinese scientists published in 2009. He developed a technique that allowed scientists to sift out rare stem cells within the ovaries of mice that were tagged and implanted into the ovaries of normal mice. In the mouse ovaries, the stem cells produced eggs, which were removed and fertilized in a laboratory dish. They developed into embryos, although scientists did not use the embryos to produce mice.

Tilly and his team then wanted to know if such cells existed in humans, too.

The research team obtained ovarian tissue removed from young women undergoing sex change operations in Japan and performed the same experiment they???d done with the mouse ovaries. Much to their excitement, they discovered the rare, egg-producing cells in humans.

In later experiments, the human stem cells were used to produce cells that appeared to be eggs. In part because of ethical limitations, researchers were not able to show that the eggs could be used to create human embryos.

Tilly said that he has patented the stem cells and licensed the technology to OvaScience, the startup he co-founded.

Outside researchers described the findings as intriguing and provocative but also raised many questions. Scientists said it was still far from certain that the eggs created in the experiments could be used to produce babies. And they expressed concern that the findings could falsely inflate the hopes of women struggling with infertility.

Dr. David Keefe, chairman of obstetrics and gynecology at New York University Langone Medical Center, said he and other clinicians who see patients would like more than anything to have greater options for women to overcome infertility. But he said the Mass. General researcher had a history of leaping ahead from basic research findings to suggest clinical possibilities.

???Those of us who take care of patients are extremely protective of their hopes,?? Keefe said. He noted that a few years ago, he saw half-a-dozen patients who wanted to delay their fertility decisions because of earlier research at Mass. General.

Even if the new findings are immediately replicated in labs around the world, Keefe said, ???it???s so far from being clinical that it???s predatory to not be circumspect about it. Humility is an absolute requirement in this field. You???re dealing with people???s hopes and dreams.??

A 2005 study led by Tilly and done in mice suggested bone marrow transplants might offer a way to restore fertility. A year later, a separate group of Harvard researchers showed that this was unlikely to be true. Tilly himself no longer believes this is a way to restore fertility.

???The big difference in that work, now in retrospect, is these non-ovarian sources [of stem cells] don???t appear to do the job,?? he said.

Tilly???s work in the past has divided researchers and failed to persuade many in the field that his interpretations are correct.

Teresa Woodruff, a professor of obstetrics and gynecology at the Feinberg School of Medicine at Northwestern University said she had already drawn up a chart of the claims made in the paper, the evidence to support those claims, and the questions they raise. Still, she said, ???I do think he???s pushing the envelope in a way that does push all of us to think more broadly.??

Evelyn Telfer, a cell biologist at the University of Edinburgh, who criticized some of Tilly???s earlier work, said she is excited about the new findings. Tilly said that next month, he will fly to Scotland to begin a collaboration with Telfer.

???What he???s saying is we can get these cells,?? Telfer said, ???and I think it???s pretty convincing.??

The new paper doesn???t offer evidence that such stem cells are active in the ovary, supplying eggs during a woman???s lifetime. But the powerful cells could provide new insights into the important and poorly understood process in biology of egg-formation and allow scientists to look for drugs that might increase the activities of these stem cells, in order to overcome fertility problems.

Skeptics and supporters agreed on one thing: much work lies ahead.

???That???s science,?? said Hugh Clarke, a professor in the department of obstetrics and gynecology at McGill University. ???Of course, dogma should be challenged, but we shouldn???t assume dogma has been overturned based on a single report.??

Carolyn Y. Johnson can be reached at cjohnson@globe.com. Follow her on Twitter @carolynyjohnson.

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Massachusetts General researchers discover stem cell that makes eggs

SUNDAY, Feb. 26 (HealthDay News) -- Researchers report that they've isolated stem cells from adult human ovaries that can mature into eggs that may be capable of fertilization.

The lab findings, which upend longstanding scientific theory, could potentially lead to new reproductive technologies and possibly extend the years of a woman's fertility.

It was long believed that women were born with a lifetime supply of eggs, which was depleted by menopause. But a growing body of research -- including a new paper from Massachusetts General Hospital -- suggests egg production may continue into adulthood. The study is published in the March issue of Nature Medicine.

"Fifty years of thinking, in every aspect of experiments, of interpreting the results, and of the clinical management of ovarian function and fertility in women was dictated by one simple belief that turns out to be incorrect," said lead study author Jonathan Tilly, director of the hospital's Vincent Center for Reproductive Biology. "That belief was the egg cell pool endowed at birth is a fixed entity that cannot be renewed."

Dr. Avner Hershlag, chief of the Center for Human Reproduction at North Shore-LIJ Health System in Manhasset, N.Y., said the study is "exciting" but emphasized the work is still very preliminary.

"This is experimental," Hershlag said. "This is a beginning of perhaps something that could bring in new opportunities, but it's going to be a long time in my estimation until clinically we'll be able to actually have human eggs created from stem cells that make babies."

The same team at Mass General caused a stir in 2004 when it published a paper in Nature reporting that female mice retain the ability to make new egg cells well into adulthood.

In both mice and humans, the vast majority of egg cells die through a process called programmed cell death, or apoptosis, the body's way of eliminating unneeded or damaged cells. For humans, that process is dramatic. Female fetuses have about 6 to 7 million eggs at about 20 weeks' gestation, a little more than 1 million at birth, and about 300,000 by puberty.

Studying mice egg cells and follicles, the tiny sacs in which stem cells become eggs, the Mass General researchers discovered something that didn't make mathematical sense.

Most prior research had focused on counting the healthy eggs in the ovaries, and then made assumptions about how many had died from that, Tilly said. But his lab looked at it the opposite way and focused on cell death.

"We found far too many eggs were dying than could be accounted for by the net change in the healthy egg pool," Tilly said. "We reasoned that maybe the field had missed something." They wondered if stem, or precursor cells, were repopulating the ovaries with new eggs.

Initially, the findings were met with skepticism, according to the study authors, but subsequent research bolstered the conclusions.

Those included a 2009 study from a team in China, published in Nature Cell Biology, that isolated, purified and cultured egg stem cells from adult mice, and subsequently introduced them into mice ovaries that were rendered infertile. The infertile mice eventually produced mature oocytes that were fertilized and developed into healthy baby mice.

Studies showing that women had the same capacity as mice were lacking, however.

In this study, Tilly's team used tissue from Japanese women in their 20s and 30s with gender identity disorder, who had their ovaries removed as part of gender reassignment surgery.

The researchers isolated the egg precursor cells and inserted into them a gene from a jellyfish that glows green, then inserted the treated cells into biopsied human ovarian tissue. They then transplanted the human tissue into mice. The green fluorescence allowed researchers to see that the stem cells generated new egg cells.

Tilly said the process makes evolutionary sense. "If you look at this from an evolutionary perspective, males have sperm stem cells that continually make sperm. Because species propagation is so important, we want to make sure it's the best sperm, so don't want sperm sitting around for 60 years waiting to get used," he said. It makes no sense from an evolutionary perspective that "females will be born with all the eggs they will have and let them sit there," he noted.

Hershlag, meanwhile, said much remains to be overcome.

"Ultimately, in our field only one thing counts," he said, "and that is if you can make an egg that can make a healthy baby."

More information

The U.S. National Library of Medicine has more on how human embryos develop.

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Stem Cell Finding Could Expand Women's Lifetime Supply of Eggs

Date: Saturday Feb. 25, 2012 8:31 AM ET

VANCOUVER — Marni Abbott-Peter has won three gold medals over years of playing basketball around the globe.

It wasn't until she got out of the game that she realized keeping her heart in good shape would feel like jumping through hoops.

The 46-year-old retired Paralympic athlete has used a wheelchair since crushing her spine in a downhill skiing accident at age 18.

She says her life, and many others with similar injuries, will be positively impacted by a $1.9 million research grant accepted on Friday by researchers to study the effects of exercise in people living with spinal cord injuries.

"I've been living with a spinal cord injury for 30 years, so for me, the spinal chord research that's based on finding a cure is not important to me now," she said in an interview after the federal health minister announced the funds in Vancouver.

"I know I'll never walk again. I want to know how I'll live a healthier, happy life."

Some 40,000 people in Canada have spinal cord injuries. Heart disease is their No. 1 killer, said Dr. Andrei Krassioukov, who will lead a team of 20 scientists, clinicians and health-care advocates in examining the best ways to shrink the number of fatalities.

The doctor is a principal investigator at the ICORD spinal injury centre, which is supported by the University of British Columbia and Vancouver Coastal Health.

The five-year project, funded by the Canadian Institutes of Health Research, will design practical solutions for people with such injuries to improve their health.

For example, it will clinically test the impact of specific kinds of exercises, such as body weight support training on a tread mill and arm cycling. From there, the team may be able to tailor-make an exercise regime for those who are injured.

"Cardiovascular disease (is) occurring in people with spinal cord injuries at a young age and at higher rates than able-bodied individuals. It's a disaster," Krassioukov said. "There are obviously reasons for this."

Krassioukov led a major study of athletes during the 2010 Vancouver Paralympic Games, and as part of the new study, he will head to London for the 2012 Summer Games to conduct further research.

Over a two-week time frame, his team will meet with paralympic athletes from around the world in an attempt to probe one particularly risky practice at the behest of the International Olympic Committee.

Krassioukov said some athletes with spinal cord injuries have discovered they can boost their competitive advantage by creating a spike in their own blood pressure before getting on the field.

Because spinal cord injuries are typically accompanied by low arterial blood pressure, some athletes will drink extra water before competition and then avoid going to the toilet. The result is a jump in blood pressure, and that kicks some extra energy into their body.

The practice of inducing what's called "autonomic dysreflexia" is prohibited at the Olympics, and can be life-threatening, Krassioukov said.

People who do so can suffer a stroke, bleeding in the brain or a heart attack, and ultimately it can lead to death.

"(It's) very dangerous," Krassioukov said. "But unfortunately this is a reality in the sport."

Abbott-Peter hasn't been training on the courts for seven years now. She said that without that goal of winning and a team to support her, it's been easy to neglect her fitness.

Her energy level is not what it once was, and she has also gained weight. She said the study's aim of getting out word about the importance of exercise will be valuable for people with spinal chord injuries.

"I think people with (injuries) are going to be really surprised when they hear some of the statistics."

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Study to probe heart health, spinal cord injury link

ScienceDaily (Feb. 24, 2012) — The RIKEN Center for Genomic Medicine is examining how drugs can be matched to a patient's genetic information through the study of single nucleotide polymorphisms. Taisei Mushiroda from the Laboratory for Pharmacogenetics explains...

Drugs are not equally effective on all patients. A treatment that is dramatically effective on some patients can be ineffective on others. Drugs can also have serious side effects; in the worst case, a drug used to treat a disease can produce a fatal outcome. By examining genetic differences among individuals and administering drugs on the basis of such findings, the impact of side effects can be reduced. Taisei Mushiroda, the Laboratory Head of the Research Group for Pharmacogenomics at the RIKEN Center for Genomic Medicine, is making advances in personalized medicine with research into how drugs can be tailored to a patient's genetic information through the analysis of single nucleotide polymorphisms (SNPs).

Identifying the single nucleotide polymorphism (SNP) that plays a key role in drug rash

Japan's Ministry of Health, Labor and Welfare announced that the gout treatment allopurinol, the antiepileptic drug carbamazepine and the analgesic, anti-inflammatory, antipyretic drug loxoprofen hold the highest incidence of serious drug rash.

"The data we collected showed that the great majority of drug rash cases were caused by carbamazepine. We therefore proceeded to clarify the relationship between carbamazepine and drug rash, using Genome- Wide Association Study (GWAS). We divided our study population into two groups: those who experienced side effects and those who did not. We performed a comprehensive analysis of single nucleotide polymorphisms (SNPs) on the genome to statistically extract SNPs that are significantly associated with drug rash. The gene involved in drug rash was then identified from among those positioned near the SNPs"

Strands of DNA carry genetic information in the sequenced arrangement of the four bases A (adenine), T (thymine), G (guanine) and C (cytosine). Consisting of some three billion base pairs, the human genome carries the complete genetic information of a human being. Although there is more than 99% base sequence homology in all people, the remaining 1% of base sequences differ individually. "These differences are SNPs. It is estimated that more than 10 million SNPs are present in the human genome. They are associated with the appearance and constitution of the individual, and even with how drugs work and what side effects develop."

Relationship between drug rash caused by the antiepileptic drug carbamazepine and the HLA-A*3101 gene

Mushiroda and his colleagues conducted a study on Japanese epileptic patients undergoing treatment with carbamazepine. Of the sixty-one patients who experienced drug rash, 37 (about 61%) were found to have the HLA- A*3101 gene. In contrast, of the 376 patients who did not experience drug rash, 329 (about 88%) were found to lack HLA-A*3101.

"Reportedly, about 3% of Japanese patients experience drug rash when taking carbamazepine. About 60% of those have HLA-A*3101. It is therefore recommended that 60% of 3% (about 2%) of Japanese epileptic patients take antiepileptic drugs other than carbamazepine. In this way, the incidence of drug rash can be reduced by 2%," says Mushiroda. However, as this association was only discovered in 2010, further evidence must be presented before it can be useful in a clinical setting.

Personalized medicine expected to find clinical applications in 1 or 2 years

The next step after identifying the associated SNP is to determine its applicability in the clinical setting. It is also necessary to verify that SNP diagnosis is effective in both therapeutic and cost-benefit aspects. In ongoing prospective clinical research of nevirapine, it has been estimated that SNP diagnosis would cut annual medical expenditures by about US$60,000 (about ¥5 million) per hospital. This next phase will be necessary for successful application of the new system to the antiepileptic drug carbamazepine.

Before SNP genotyping can be firmly established in medical practice, however, a quick and accurate method to examine SNPs at the lowest cost is needed. In collaboration with Toppan Printing Co. Ltd. and RIKEN Genesis Co. Ltd., Mushiroda's team have developed the TPSA-003 genotype analysis system which can help to deliver more economical SNP genotyping (Fig. 3). The system provides results automatically in just one hour, simply by placing a single drop of untreated blood in the dedicated container and inserting the sample in the machine. "This is a groundbreaking machine. The conventional method involves the complex process of separating leukocytes from the blood sample, extracting the DNA from the leukocytes and applying the DNA to the machine to analyze SNPs. Conventionally, DNA extraction alone requires at least half a day even when undertaken by a highly skilled person. With the new system, the same task, including SNP genotyping, is completed in 60 minutes. This means that an accurate diagnosis can be obtained while the patient stays in the waiting room. Quick diagnosis is a big advantage for the patient as well."

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Advancing personalized medicine: Tailoring drugs to fit a patient's genetic predisposition

BEEF producers from Australia and across the globe attending Beef Australia 2012 have the chance to arrive in Rockhampton early and enhance their cattle breeding knowledge by participating in the Bayer & Bioniche International Beef Cattle Genetics Conference.

The conference will be held at the Rockhampton campus of CQ University Australia on May 6 and 7, as a lead-in event to the national cattle industry exposition, Beef Australia 2012, which runs from May 7-12.

The conference features an exceptional program of international experts and Australian industry pioneers, who will outline the tools and strategies to increase genetic improvement, as well as permanently and sustainably increase productivity of the national herd.

Leading beef producer Kara Knudsen, of Mundubbera, Qld, was one of the first to register to attend the conference, as the latest in genetic technology was the key to staying ahead of the game.

“As a commercial producer I believe knowledge and embracing new technologies as they become commercially available is a key to long-term success,” Ms Knudsen said.

“We’re heading to the conference to find out first-hand what is happening at the frontier of genomics and what is available to us now.

“We are investigating the use of embryo transfer technology. Currently this is only economical for stud producers, but new research and better techniques now mean these sorts of processes are in reach of the average producer and genetic progression can happen at lightning speed.””

Among the keynote speakers will be Professor Mike Goddard, who will release the Beef Cooperative Research Centre’s (Beef CRC) updated accuracies for the blended genomic breeding values, which will be an invaluable tool for producers in selecting the best breeding stock to improve the productivity of their herds.

The new breeding values will include hard-to-measure genetic traits like carcase and meat quality, net feed intake and male and female reproductive performance in tropical cattle.

Among the international experts speaking at the conference will be Professor Raysildo Lôbo, from the University of São Paulo, who is also President of the Brazilian Association of Cattle Breeders and Researchers (ANCP).

He has 40 years of experience in developing applications of Animal Breeding and Reproductive Biotechnology, has written more than 200 scientific papers for international journals, and will offer an insight into the genetic developments in the world’s largest beef cattle herd.

“The Brazilian beef industry is committed to improving the efficiency of the national herd of nearly 204 million cattle,”” Dr Lôbo said.

“Breeders of our national breed, the Nellore, that represent around 80 percent of the herd, are putting a huge effort into improving fertility using genetic selection for breeding values for fertility traits integrated with genomic tools.”

Other major topics to be covered at the conference include: International Market Opportunities for Beef; Opportunities for Import and Export of Superior Genetics; the international launch of the MateSel Mate Selection Technology; and case studies of how genetics can add value throughout the beef supply chain.

After the conference a number of international delegates will be also attend the Bayer Genetics and Reproduction Technologies Marketplace during the week of the exposition.

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Genetics conference a lead-in to Beef Australia 2012

Breakthrough stem cell research at Scripps Research Institute in La Jolla, Calif. has the potential to revive endangered species. Researchers at the Center for Regenerative Medicine are aiming to turn stem cells into gametes. Once new eggs and sperm are created, “test tube babies” can be born, possibly preserving a species.

In 1972, researchers preserved skin cells of certain endangered species at the Frozen Zoo, hoping that future technology would help to revive populations, and today Scripps researchers are combining the frozen skin cells with human stem cells to generate stem cells specific to the animal. Stem cells are turned into gametes through re-programming, a process in which retroviruses are used to bring the cells back to earlier stages of development. Last month, scientists created mouse sperm cells through this process.

Scientists view this method of species preservation as a last resort when cheaper, simpler means have failed. For instance, the white rhino, whose population is numbered at seven in the world, would benefit immensely since other methods of trying to save the species have failed. Scientists also hope to help the drill, a West African primate threatened by hunting and habitat degradation.

—compiled by Michelle Lim

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One Response to “Rescuing the white rhino?”

Kochi, Feb 25 (IANS) In the wake of Prime Minister Manmohan Singh questioning the role of foreign-aided NGOs in opposing use of genetic engineering, union Rural Development Minister Jairam Ramesh Saturday stressed that the decision to ban commercial use of Bt. Brinjal was not influenced by any NGO.

Answering queries from media persons on his visit here, Ramesh said his decision on Bt Brinjal was based on wide consultations with stakeholders, adding that the use of bio-technology for the crop to be consumed by humans needed to be carefully evaluated.

'No NGO influenced my decision,' said Ramesh, who had decided to put on hold the commercial release of the Bt. Brinjal in February 2010 when he was union environment minister.

Ramesh's remarks assume significance in the wake of prime minister's interview to a science journal saying that India must make use of genetic engineering technology to increase agricultural productivity, and NGOs funded by the US and Scandinavian countries were not fully appreciative of the country's development challenges.

Ramesh said that the decision to put a moratorium on the commercial release of Bt. Brinjal was taken after seven months of consultations with the public, various stakeholders including the states, farmers and NGOs. He said he had written on the issue to the chief ministers of all states.

Bio-technology in agriculture was not merely a scientific issue but 'political issue' as it affects human safety, he said.

Referring to his decision on Bt Brinjal, Ramesh said Greenpeace had accused him of propagating the line of genetic engineering firm Monsanto during a public hearing in Bangalore.

'So on Bt Brinjal, since I was directly involved, I can confidently say no NGOs influenced my views,' he said.

The minister said that there was no scientific consensus on Bt. Brinjal, the full protocol on the test has not been completed and there was no independent professional mechanism to instil confidence in the public.

'I did not ban Bt Brinjal. I decided lets put moratorium (on it),' Ramesh said and added he could not have ignored opinion of chief ministers who opposed it.

Gujarat Chief Minister Narendra Modi, who supports Bt Cotton, did not support the move on Bt Brinjal, he noted.

'I cannot ignore states. Ultimately in agriculture, we have to take states along with us,' he said.

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Bt.Brinjal decision not influenced by NGOs, asserts Jairam

Researchers find the first evidence that a sirtuin gene prolongs life in mice.

In 2001, researchers showed that a sirtuin protein—associated with the cellular stress response and metabolism—was essential for slowing aging in yeast. Now, researchers at Bar-Ilan University in Ramat-Gan, Israel, found that a different member of the sirtuin family may stall death in mice, suggesting sirtuins may also be significant players in mammalian aging.

A couple of years ago, sirtuin 1 (SIRT1) became the focus of attention in aging research because it was the gene that most closely resembled the yeast gene linked to longevity. In 2008, pharmaceutical giant GlaxoSmithKline paid $270 million for a biotech company that was searching for compounds that activated SIRT1, according to Nature. But evidence for SIRT1’s role in expanding lifespan in humans has been hard to come by, and research showing its longevity effects in fruit flies has been questioned.

Instead, researchers at Bar-Ilan turned their focus to sirtuin 6 (SIRT6), which in 2006 was shown to speed death in mice lacking the gene. Here they showed that, at least in male mice, overexpression of the SIRT6 extended lifespan by nearly 16 percent. However, other researchers question whether the increase in lifespan is really due to improved longevity, which is associated with improved memory and mobility, or rather a result of anti-cancer or improved metabolic effects, reported Nature.

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A Mammalian Longevity Gene?

London, Feb 24 (ANI): Scientists have mapped the genetic code of the most common type of hereditary breast cancer for the first time, which has raised hopes for better diagnosis and treatment of the killer disease.

The researchers have "fully sequenced" the DNA of two breast cancers caused by a faulty BRCA1 gene, which is responsible for aggressive and highly drug-resistant tumours.

The team from the Breakthrough Breast Cancer Research Centre at the Institute of Cancer Research (ICR) say they hope that their work will lead to more tailored treatment for patients.

"It is exciting to find new genes which could be involved in causing and driving breast cancer. Now these have been identified we have to do more work to find out the role that they play. Ultimately, this knowledge could help us develop new treatments that target the specific defects of each patient's disease," the Daily Star quoted Rachael Natrajan, one of the scientists involved in the study as saying.

Breast cancers genetically passed down through families account for up to 10 percent of all cases, affecting around 4,500 people in the UK each year.

According to the scientists, cases caused by the BRCA1 gene are "usually aggressive" and "do not benefit" from targeted drugs such as tamoxifen and herceptin.

The research found that despite both tumours being caused by the same source they mutated in almost completely different ways.

"We often consider patients with a faulty BRCA gene as one group but our work shows that each tumour can look very different from each other genetically. Now we understand this, we can start to identify the best treatment strategies to save more lives of hereditary breast cancer patients," Jorge Reis-Filho, who co-authored the study, said.

The study has been published in the Journal of Pathology. (ANI)

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New gene mutation raises hope for breast cancer patients

Researchers at the University of Arizona have identified a previously unknown mutation in a sodium channel protein in the central nervous system as the likely cause of a severe form of epilepsy.

Such deciphering of the genetic information from a single individual in a matter of weeks to find a certain disease-causing genetic mutation would have been unthinkable just a decade ago.

But today, a team of researchers led by Michael Hammer applied Next Generation Genome Sequencing to decipher the entire DNA from a patient who had died a sudden, unexplained epileptic death.

In addition to finding the likely cause of the patient’s death, the findings offer some emotional comfort and explanation to the patient’s family in the absence of a firm medical diagnosis and any family history of similar disease.

“If you have a small child with severe epilepsy, not knowing what is causing it is a big burden to carry for the family,” said Mr. Hammer, an associate professor in UA’s department of ecology and evolutionary biology and a research scientist at the UA’s Arizona Research Labs.

“It leaves a lot of open questions and sometimes even feelings of guilt.”

Due to the severity of the patient’s condition, the absence of the disease in both parents and her younger sibling and no family history of epilepsy, Hammer and first author Krishna Veeramah ruled out an inherited genetic defect as the cause.

Rather, they suspected a so-called de novo mutation, a “typo” in the genetic alphabet generated by pure happenstance, most likely in the paternal germ line.

“We were tasked with the search for the proverbial needle in a haystack,” said Veeramah, a postdoctoral fellow in Hammer’s lab.

“To find a de novo mutation, we have to comb through the entire genome. In the old days, we could have generated a list of candidate genes and sequenced them one gene at a time. Unfortunately that’s a lot of work, especially in the brain where you have thousands of genes that could potentially be involved in a process leading to a neurological disorder.”

“The development of Next Generation Sequencing Technology in recent years provides a much more powerful approach to actually analyze all the genes at the same time. So that’s what we wanted to do.”

“We are looking at the level of the entire genome,” Hammer said, “something that was not possible until very recently.”

“For a neurological disorder like this, the cause could be a mutation in a particular gene; it could be a certain sequence that was rearranged; or it could be a sequence that was deleted or duplicated changing the number of gene copies.”

“We all have variations in the number of copies of certain genes, but they’re not necessarily bad,” he said.

“But sometimes that variation can cause disease.”

“For example, some percentage of previously unexplained intellectual disability has been found to be associated with genomic rearrangements.”

In this case, the researchers did not find a smoking gun from looking at copy number variations, leaving point mutations or small insertions or deletions of DNA letters as a likely cause.

Using the sequencing technology capabilities of Complete Genomics Inc., between 96 and 97 percent of the patient’s DNA sequence, as well as the genomes of her parents and her sibling, was deciphered within just a few weeks.

Veeramah noted that each one of the roughly 3 billion base pairs that make up the human DNA alphabet was covered by at least 50 reads.

“This is important because whole genome sequencing still makes a lot of errors so you have to double up on your efforts to get the accuracy you need.”

The family’s DNA sequences turned out to stray from the human reference genome in about 5 million places. This may sound like a lot, but in light of the fact that only about 2 percent of the human DNA sequence contains actual genes, most of those variations fall into non-coding regions of the genetic material.

Next, Hammer’s team had to determine what those variations meant. Using databases of known genes, they checked which were located in actual gene sequences and which would change the amino acid sequence of the respective protein they encoded.  They were ultimately left with about 13,000 mutations.

They hoped that somewhere in that pool of candidates was that one mutation that had caused the girl’s epilepsy, and possibly led to her death.

To pare down the number of possibilities, the researchers screened for mutations that appeared to violate the laws of Mendelian inheritance.

“De novo mutations will look like they don’t obey the rules by which we know genetic material is inherited,” Veeramah explained.

“The patient will have a variant that is not found in the parents or the sibling. We found 34 sites that fit this pattern.”

On average, in one individual, only one spontaneous mutation springs up within the coding region of a gene. Therefore, finding 34 told the team that most of those mutations most likely were sequencing errors.

“Ten of them had already been listed in public databases, meaning they occur in normal individuals and should not be disease-causing. They’re probably just systematic artifacts of the sequencing process, so we could eliminate them,” said Veeramah.

The researchers sequenced the remaining 24 variations by standard methods, and as expected, only one turned out to be a real mutation. The variant, which was not previously associated with any human epilepsy disorders, consisted of a wrong letter in a gene that serves as the blueprint for a protein with an important role in how nerve cells communicate with each other.

“These channels perform extremely critical functions,” Veeramah said, “which is illustrated by the fact that their structure is very similar from fruit flies to fish to lizards to humans. Just by looking at how highly conserved those proteins have remained over millions and millions of years of evolution, it is pretty clear that the mutation we found is a particularly damaging one that shouldn’t really occur.”

Identifying a mutation in a critical component of the nervous system in a patient afflicted with severe and otherwise unexplained epilepsy would have been reason enough to halt the study and declare the case closed.

“We decided to take it a step further and actually see if we could find out the exact consequences of that mutation,” Veeramah said.

To that end, the team performed electrophysiological studies on this particular mutation.

The researchers partnered with geneticist Miriam Meisler at the University of Michigan to insert the faulty gene into cultured neural cells, and then studied what happened when they subjected the cells to a mild electric current, just as they would experience when stimulated by another nerve cell in the central nervous system.

“When the voltage is increased, there is a sudden opening of sodium channels,” Veeramah said.

“Shortly afterward, they close really quickly and the voltage goes back to normal. And that’s essentially how normal neurons communicate, how electrical signals are sent around the brain and the body.”

“In contrast, the mutant channel proteins opened as quickly as they should, but some of them failed to close quickly, and some didn’t close at all.”

“All this results in the electrical signal not being turned off properly. These changes predicted increased neuronal excitability and seizures.”

Mr. Hammer said the process used in the study could also apply to other patients with severe forms of epilepsy and other rare conditions.

“The bottom line is that we can use whole genome sequencing to find mutations that underlie those severe cases of epilepsy and take it beyond the benchmark in the literature right now by doing functional studies to confirm that we have found the right mutation,” he said.

The Hammer lab plans to establish a diagnostics facility to make whole genome sequencing available to the clinical community, in hopes of helping children with early onset epilepsy and other rare undiagnosed disorders.

“We want to repeat this experiment with many more patients,” Hammer said.

“We are ready to accept DNA from patients and carry out this type of study.”

Veeramah said the work could someday lead to specific treatments for those with serious diseases.

“Right now we are doing basic research to identify all the mutations involved. Down the line the goal is to design drugs that specifically target the affected pathways.”

Hammer said at the current cost of about $5,000 per fully sequenced genome, or $1,000 to sequence all the known human genes, the new approach could prove cost-efficient, too.

“The regular tests these patients would run up during their lifetime would vastly outweigh the cost of a whole-genome sequencing experiment.”

“Once you know what causes the condition, you can begin to be informed about management. Finding cures certainly is in the longer-run picture, even though it is not an option at this point. Until then, families suffer because they’re just sitting in the dark and wondering. Did something go wrong during pregnancy? Did I do something to cause the baby’s disorder? Finding the faulty gene can provide a vast amount of relief for the family.”

The research team published its results in the March issue of the American Journal of Human Genetics.

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Gene Mutation Responsible For Severe Form Of Epilepsy Identified

ScienceDaily (Feb. 23, 2012) — The many short pieces of mobile DNA that exist in the genome can contribute to significant biological differences between lineages of mice, according to a new study led by researchers at the Ohio State University Comprehensive Cancer Center -- Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC -- James).

The movable pieces of DNA are called transposons or "jumping genes" because they can move from one chromosomal location to another. Unlike viruses, they are not infectious and do not move from cell to cell. They have accumulated over time in the genomes of both mice and humans and now make up about half of genomic DNA in both.

For this study, researchers mapped the genomic locations of certain transposons called endogenous retroviruses (ERVs) in diverse mouse strains. They compared the different strains to learn how ERVs might influence gene expression. They found that ERVs can significantly disrupt gene expression by prematurely halting gene transcription, even when the ERV is located more than 12 thousand base pairs away in the same chromosome. They also found that the disruptive influence is affected by the gender of the parent that supplied the ERV.

The study is published online in the journal Genome Research.

"These findings add an interesting new angle to our understanding of fundamental mechanisms of natural variation and human biology, and possibly cancer and other diseases," says principal investigator Dr. David E. Symer, assistant professor of molecular virology, immunology and medical genetics and a member of the Human Cancer Genetics Program at the OSUCCC -- James.

"We showed that gene expression can be influenced very strongly by a transposon located quite a distance from the premature stop site -- up to many thousands of base pairs away in the genomic DNA. We also found that gene expression is influenced by whether the ERV was inherited from the father or the mother," he says.

A mouse gene containing an ERV inherited from the father often produced only an incomplete, truncated form of messenger RNA (mRNA); if the ERV came from the mother, not only the truncated transcript but also nearly normal levels of the full-length mRNA were produced from the gene.

"We believe this is an unusual, interesting example of a well-known phenomenon called DNA imprinting," Symer says. "We are now conducting experiments to understand how premature termination of gene expression can be triggered by the transposons, and also how the parent-of-origin effect occurs."

By comparing patterns of gene expression near the ERVs that were present or absent in the different strains, the researchers found about 100 genes whose expression appears to be disrupted when an ERV is present nearby.

"We observed very, very strong disruption of certain mouse genes by ERVs acting at a long genomic distance, and the resulting expression differences -- up to almost 50-fold changes -- can have major biological consequences that distinguish between the strains," Symer says.

Funding from the National Cancer Institute, the National Institute of General Medical Sciences and OSUCCC- James supported this research.

Other researchers involved in this study were Jingfeng Li, Keiko Akagi and Christopher J. W. Hlynialuk of Ohio State University; Yongjun Hu and David E. Smith of the University of Michigan; and Anna L. Trivett, Deborah A. Swing, Natalia Volfovsky, Robert M. Stephens, Tamara C. Morgan and Yelena Golubeva of the National Cancer Institute.

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The above story is reprinted from materials provided by Ohio State University Medical Center.

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Journal Reference:

J. Li, K. Akagi, Y. Hu, A. L. Trivett, C. J. W. Hlynialuk, D. A. Swing, N. Volfovsky, T. C. Morgan, Y. Golubeva, R. M. Stephens, D. E. Smith, D. E. Symer. Mouse endogenous retroviruses can trigger premature transcriptional termination at a distance. Genome Research, 2012; DOI: 10.1101/gr.130740.111

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

Originally posted here:
Mobile DNA elements can disrupt gene expression and cause biological variation, study shows

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/bceca2/gene_expression_to) has announced the addition of Elsevier Science and Technology's new report "Gene Expression to Neurobiology and Behaviour. Human Brain Development and Developmental Disorders" to their offering.

How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioural capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact?

This volume of Progress in Brain Research links findings on the structural development of the human brain, the expression of genes in behavioural and cognitive phenotypes, environmental effects on brain development, and developmental processes in perception, action, attention, cognitive control, social cognition, and language, in an attempt to answer these questions.

Key Highlights:

Leading authors review the state-of-the-art in their field of investigation, and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Key Topics Covered:

The developing brain: from developmental biology to behavioural disorders and their remediation Brain development and the nature vs nurture debate The dynamics of ontogeny: A neuroconstructivist perspective on genes, brains, cognition and behaviour Molecular bases of cortico-cerebral regionalization Development and evolution: two determinants of cortical connectivity Postnatal brain development: structural imaging of dynamic neurodevelopmental processes VERP and brain imaging for identifying levels of visual dorsal and ventral stream function in typical and preterm infants Neurodevelopment of the visual system in typically developing children Perinatal brain damage in children: Neuroplasticity, early intervention and molecular mechanisms of recovery The impact of perinatal stress on the functional maturation of prefronto-cortical synaptic circuits: implications for the pathophysiology of ADHD The processing of social stimuli in early infancy: From faces to biological motion perception Social and attention factors during infancy and the later emergence of autism characteristics How Special is Social Looking in ASD: A Review Developmental disorders of speech and language: from genes to brain structure and function Precursors to language in preterm infants: speech perception abilities in the first year of life From genes to brain development to phenotypic behaviour: 'dorsal stream vulnerability' in relation to spatial cognition, attention and planning of actions in Williams syndrome (WS) and other developmental disorders Neurocognitive development of attention across genetic syndromes: Inspecting a disorder's dynamics through the lens of another Connectivity and the corpus callosum in autism spectrum conditions: insights from comparison of autism and callosal agenesis Biological and social influences on cognitive control processes dependent on prefrontal cortex It's all in the head: Gene dosage and Williams Syndrome

For more information visit http://www.researchandmarkets.com/research/bceca2/gene_expression_to

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Research and Markets: Gene Expression to Neurobiology and Behaviour. Human Brain Development and Developmental Disorders

POSTED: 12:50 am HST February 24, 2012
UPDATED: 6:05 am HST February 24, 2012

HONOLULU -- GMOs. GE. Transgenic.?I think a lot of people actually don't even know what that means,? said Maui Councilmember Elle Cochran.Genetic Engineering has entered our food chain in a big way.In 2012, more than half of the crops grown in the United States are GMOs.According to the USDA, 88% of all corn crops, 90% of cotton crops, and 94% of soybean crops are GMO crops.In 2010, U.S. farmers planted 165 million acres of GMO crops.In fact, the U.S. uses more genetically modified seeds than any other country in the world.?This is the kind of corn we work with here,? said Fred Perlak, head of operations for Monsanto Hawaii, as he showed reporter Lara Yamada ears of corn in a Kunia field.?This is an important location for our worldwide operations. What we do here is build new varieties of corn and soybean,? Perlak said.?You actually take a bag and put it over the tassel, knock the pollen off, then take the bag and pour the pollen on top of the silts and then put another bag on so no additional pollen will come on,? he said.?And you do that how many times over?? said Yamada.?500,000 times on this farm alone in one year,? he said.?It's all about research and development here in the state,? said Cochran.Cochran is one of many Hawaii lawmakers keeping a close eye on what's happening in Hawaii.?What they create on Maui is what they're sending out worldwide. It's the top breed, the cream of the crop, so to speak,? she said.Cochran is concerned about GMO crops statewide.The Hawaii State Association of Counties presents a package to lawmakers every session.Cochran championed a provision to support GMO labeling.All counties approved it, except for Oahu, so that provision was dropped.?We had hours and hours of testimony, really heart-felt testimony,? she said.According to the Hawaii Crop Improvement Association, Monsanto is just one of five major companies planted here in the islands.There's also Syngenta, Dow AgroSciences, BASF, and Pioneer ? which is owned by DuPont.They are companies that own or lease 25,000 acres on Oahu, Kauai, Maui and Molokai, and they all test and grow genetically modified seeds.Perlak says it?s to add value to farmer's crops.?We?re talking about natural disease resistance, better root growth, longer stalks,? he said, giving a few examples.?We probably want to introduce something like 100 new varieties on an annual basis at Monsanto. To get those 100 varieties, we start with 100s of thousands,? he said.In genetic engineering, scientists insert new traits from a similar breed, or something completely different, right into the DNA of a plant or animal - and the reasons for doing it are endless:-Rainbow Papaya: genetically modified to resist the ring spot virus.-Soybeans: resistant to pesticides.-Corn: genetically modified to handle drought.-Rice: with added vitamins.And that's just the beginning:-Strawberries with flounder genes to resist frost.-Goats with spider genes to produce milk with silk fibers.-Pig's noses that glow in the dark - thanks to a jellyfish gene.The list goes on: plants and animals that grow faster, produce more, eat less, and leave less waste, but also make infection-fighting drugs, grow organs for human transplant, and treat chronic diseases.?These varieties will help increase the efficiency and productivity of farmers around the world, which has implications for all of us,? said Perlak.?You have people who are really up in arms,? said Cochran.She has not given up.She visited the capitol to keep the issue of what to do about GMOs on lawmakers' plates.And it?s an issue that's increasingly hard to ignore.?I'm digging more into it and learning and studying what it's about,? she said.Part 2: The Issues
Part 3: Laws, Lawmakers & Lawsuits

Copyright 2012 by KITV.com All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

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The GMO Debate, Food For Thought Part 1

Video

New Delhi: Union Minister Jairam Ramesh on Saturday defended his decision to put a moratorium on Bt Brinjal and said that he has never been influenced by NGOs in taking decision on Genetically Modified (GM) foods, during his stint as Environment Minister.

Jairam Ramesh said no NGO influenced his decision to put a moratorium on Bt Brinjal, a statement that comes against the backdrop of PM raising questions about the role of foreign funded NGOs in blocking use of genetic engineering.

Speaking to CNN-IBN, Jairam said the wide-spread opposition to GM crops from several states and the lack of public-sector backed GM seeds guided his decision.

"On Bt Brinjal since I was directly involved I can confidently say no foreign NGOs influenced my view. The moratorium on Bt Brinjal was imposed on March 9, 2010. Almost two years have passed. I went though a seven month process of public consultation with scientists, NGOs, civil society organisations, farmer organisations in which 8000 people participated. I wrote to chief ministers. I wrote to 50 scientists across India and the world," said.

"Green Peace a foreign funded NGO accused me of propagating the line of Monsanto during a public hearing in Bangalore. So on Bt Brinjal, since I was directly involved, I can confidently say no NGOs influenced my views," Ramesh, said.

He said his position on Bt Brinjal was determined by the positions of state governments, the lack of consensus among the scientific community, the fact that the tests were not completed and there was no independent professional mechanism which will instill confidence in the public.

"I did not ban Bt Brinjal. I decided lets put moratorium. Lets fulfill all these four conditions and then revisit the whole issue," he said.

His remarks came in response to a question about allegations that some NGOs based in Scandinavian countries funded the protests against Bt Brinjal. His remarks also came against the backdrop of Prime Minister's comments that some NGOs based in the United States and Scandinavian countries were not "fully appreciative" of the development challenges India faces.

Ramesh said as Environment Minister he enforced the moratorium on Bt Brinjal on February nine, 2010 after going through a seven-month process of public consultation.

The Rural Development Minister said that there were four concerns on the Bt Brinjal. "There was no scientific consensus for the need for Bt Brinjal, scientists were divided. MS Swaminathan, the father of the green revolution had also raised questions. The full protocol of tests had not been completed. Unlike Bt Cotton, Bt Brinjal is something you eat every day. Safety and reliability tests had not been completed," he said.

"While the NGOs had a point of view, my position on Bt Brinjal was determined by opposition from state governments, lack of consensus among the scientific community, the fact that the tests had not been concluded, and there had been no independent professional regulatory mechanism, which could instil confidence in the public. That food crop which is going to be ingested are going to be safe for consumption. I did not ban Bt Brinjal. I said let's fulfill these four conditions and then revisit the issue," he added.

(For updates you can share with your friends, follow IBNLive on Facebook, Twitter and Google+)

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Jairam defends controversial Bt Brinjal decision

Re "Label this one 'Do Not Touch'" (Dan Morain, Feb. 19): Morain's article shows a lack of understanding of the issues involved in genetic engineering with regard to foodstuffs, and an unfortunate willingness to accept the arguments of proponents of the technology rather than those who are critical of it.

I have been following this issue for over a decade, objectively looking at evidence on both sides, and have become convinced that there are serious questions with GMOs. At root is the fact that for the first time in the history of the planet, it has become possible for scientists to cross species boundaries as they endeavor to produce what are essentially new life forms.They may look like their natural counterparts, but they may contain genetic material from a variety of completely different life forms.

A tomato may contain material from animals, insects, vituses, bacteria, etc., together in a completely new mix. Consequences? Unknown! Problems already appearing.

-- Professor Robert Millar, Walnut Creek

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See the original post here:
Genetic engineering more dangerous than Morain thinks

MANILA, Philippines - Different countries have different policies/rules on the use of genetic engineering techniques in agriculture and food production. Genetic engineering simply means that the genes of one organism are injected (cut-out and pasted) into the genome of another organism using the so-called gene-splicing techniques of biotechnology in a laboratory resulting in the creations of combinations of plants, animals, bacteria and viral genes that do not occur in nature or through traditional crossbreeding methods.

The products created through the technique of genetic engineering are the so-called GMO (genetically modified organisms) products or transgenic products.

The first genetically modified plants were introduced in the 1980s. Twenty years later (year 2000), genetically modified crops spread to about 44 million hectares of land from less than three (3) hectares in 1996. Common transgenic products include rice, corn, wheat, tomatoes, and soybeans.

To date, countries are not in total agreement as to the extent of regulations/rules the government should promulgate on GMOs. Some countries impose total ban on the production of GMO products because of the damage to human's health due to the presence of allergens, preservatives, and fertilizers used on GMO plants.

On the other hand, there are countries that impose no restrictions and allow the use of GMO products. Also, the reasons advanced using gene-splicing techniques are: it will result to bigger farm yield; higher profitability for the farmers; and cheaper prices of food.

Not many know that there at least thirty-two (32) countries that are imposing mandatory labeling for any product that has been genetically modified. For example, the European parliament passed on April 14, 2004, a rule that all products containing more than nine (0.9) percent of GMO must be labeled... including the labeling of animal feed containing GMOs. Once labeled, the GMOs are being allowed to be sold.

Yes, products containing genetically modified organisms (GMO) should be labeled as such. Also foods derived from GMO. This is the growing clamor of consumers here and abroad. And rightfully so. This is also adherence to the ''full disclosure'' relationship between sellers and buyers. And to use a more popular term for buyers - the consumers.

The consumers should be given the final option whether to patronize GMO products - especially food. Anyway, proponents of GMO products as well as those against such products both have the opportunity to sell their ideas as well as their products to the public. This is what democracy is all about.

By the way, there are countries that consider the use of labels to inform consumers in one country as a form of trade protectionism. Simply because the use of labels may limit the ability of GMO products to gain market access in one country. Different countries may also have different definitions of what is harmful to humans, animals, or environment.

The labeling of GMO products can either be initiated by the producers in the private sector or by the government. In the first case, the labeling is voluntary. In the second case, it is mandatory to protect the consumers. In mandatory GMO-labeling, private firms are held accountable for misrepresentation.

In the US, there is no federal regulation requiring the mandatory labeling of GMO. What is heartening to note though is that there are legislators in individual states in US that are crafting their own labeling registration. For example, Senator Maralyn Chase of Washington State has sponsored a bill that would require both raw GMOs and processed foods containing GMOs to be properly labeled beginning July 2014.

Also, ''Ireland recently banned the growth of any genetically modified foods, and the country has also made available a GMO-free label that can be placed on animal products like meat, poultry, eggs and dairy, fish, and crustaceans, that are raised with feed free of GMOs.''

Prince Charles also once called GMOs the ''biggest environmental disaster of all time,'' while agriculture industrialists like Monsanto swear they're safe for human consumption and a boon for the environment.

While biotechnology is concededly a boom to mankind not only in the area of food production and agriculture but also in other areas like environment and health - there are groups clamoring for the imposition of health and safety measures as there may be disastrous consequences in ''messing with nature.''

Why the so-called ''messing with nature''? Simply because one of the major branches of biotechnology is genetic engineering. The subject of genetic engineering involves the manipulation of genes in humans, animals, and plants. Admittedly, there are advantages as well as disadvantages of genetic engineering. These advantages and disadvantages have to be clearly articulated to our consumers otherwise the anti-GMO sentiment will spread throughout the country - especially when it comes to GMO food products. Food safety is understandably a major concern of cautious consumers nowadays - with the prevalence of different kinds of cancer and other diseases.

Finally, this question as to whether or not our government should impose mandatory labeling of GMO products - especially GMO food products should be resolved soonest by our legislators.

Have a joyful day!

Read more here:
GMO Labeling

Washington, Feb 24 (ANI): Scientists have identified genes whose expression levels can identify people with age-related macular degeneration (AMD) as well as tell apart its subtypes.

AMD is one of the leading causes of blindness worldwide, especially in developed countries, and there is currently no known treatment or cure or for the vast majority of AMD patients.

It is estimated that 6.5 percent of people over age 40 in the US currently have AMD. There is an inheritable genetic risk factor but risk is also increased for smokers and with exposure to UV light. Genome-wide studies have indicated that genes involved in the innate immune system and fat metabolism are involved in this disease.

However, none of these prior studies examined gene expression differences between AMD and normal eyes.

In order to address this question, researchers at the University of California Santa Barbara, the University of Utah John Moran Eye Center, and the University of Iowa combined forces and used a human donor eye repository to identify genes up-regulated in AMD. The ability of these genes to recognize AMD was tested on a separate set of samples.

The team discovered over 50 genes that have higher than normal levels in AMD, the top 20 of which were able to "predict" a clinical AMD diagnosis. Genes over-expressed in the RPE-choroid - a tissue complex located beneath the retina - included components of inflammatory responses, while in the retina, the researchers found genes involved in wound healing and the complement cascade, a part of the innate immune system.

They found retinal genes with expression levels that matched the disease severity for advanced stages of AMD.

"Not only are these genes able to identify people with clinically recognized AMD and distinguish between different advanced types - some of these genes appear to be associated with pre-clinical stages of AMD. This suggests that they may be involved in key processes that drive the disease. Now that we know the identity and function of many of the genes involved in the disease, we can start to look among them to develop new diagnostic methods, and for new targets for the development of treatments for all forms of AMD," Monte Radeke, one of the project leaders, said.

The study has been published in BioMed Central's open access journal Genome Medicine. (ANI)

See the rest here:
Genetic basis of age-related macular degeneration identified

FRIDAY, Feb. 24 (HealthDay News) -- Sudden Infant Death Syndrome (SIDS) may sometimes have a genetic component, a team of German researchers reports.

DNA analysis from a small group of infants who succumbed to SIDS revealed that many of the male children carried a particular enzyme mutation that may have impaired their ability to breath properly. This was not the case for female SIDS patients.

Study author Dr. Michael Klintschar, director of the Institute for Legal Medicine at Medical University Hannover in Germany, said his team tried to build upon previous research suggesting that "abnormalities in the brain stem, the part of the brain that regulates breathing and other basic functions, lead to SIDS."

"The reasons for these abnormalities are unclear," he noted, "but some scientists believe that the genes inherited by the parents might be one of several factors."

Klintschar and his colleagues found indications that SIDS risk might be higher among male infants who carry a mutation of an enzyme -- called MAOA -- that appears to impede key neurotransmitter function.

"Babies that have this variant inherited might have an impaired breathing regulation," he said. "But the risk conveyed by this gene variant is relatively small compared to other factors, like sleeping position [or exposure to] smoking. Moreover, the findings have to be replicated in another population sample."

The study appears online and in the March issue of Pediatrics.

The authors noted that SIDS is one of the great mysteries in pediatric medicine, with efforts to pin down the root cause for the sudden loss of children under the age of 1 year falling short of a definitive answer.

The new study focused on 156 white infants (99 boys and 57 girls) who were born in the Lower Saxony region of Germany and died while sleeping.

The deaths took place between the second and the 51st week of life, and all remained "unexplained" despite full autopsies, clinical history reviews and analyses of the circumstances of death.

DNA samples were taken from all the deceased, as well as from another 260 male adults between the ages of 18 and 30.

The result: MAOA mutations were more commonly found among male SIDS children than among their healthy male counterparts. This did not hold true with female SIDS children.

Most mutations appeared to be clustered within a specific time frame of death that correlated with the majority of SIDS fatalities. That is, infants who had died between the age of 46 days and 154 days -- the most prevalent period of SIDS deaths among the study group -- were significantly more likely to carry MAOA mutations than those children who died at ages above 5 months.

The authors concluded that among at least a subset of male SIDS patients, a genetic brain stem abnormality might be the driving force leading to their sudden loss.

"Our study furthers our understanding of the mechanism of SIDS," Klintschar said. "[But] it does not lead directly to a 'cure' of SIDS. And up to now [it] does not enable a lab test to estimate the individual risk of a baby to die from SIDS. But it emphasizes that measures already recommended to prevent SIDS -- using pacifiers, avoid sleeping in the prone position, no smoking during pregnancy -- make sense. Mothers of families with a prior SIDS case in the family should be more careful than others. But in most cases, obeying these recommendations keeps the baby safe."

However, while also an advocate of such basic preventive measures, Dr. Warren Guntheroth, a professor of pediatrics at the University of Washington School of Medicine in Seattle, holds no stock in a genetic basis for SIDS.

"I think it's nonsense," he said. "There's years and years of research that has shown that SIDS is not inherited. Not genetic. The only genetic link I will admit to is that males are definitely more at risk than females. But apart from that, I think fooling around with laboratory studies of genes and saying that that might cause SIDS is a far reach."

So what can parents do?

"Probably one of the most important things is not to put the baby on its tummy for sleep. That reduces risk by 50 percent," Guntheroth said. "Another is the use of the pacifier. Pacifiers, for reasons nobody understands well, reduces the risk. Also, don't overheat the child, by overdressing or putting the infant in a room that is too hot. Finally, cigarettes increase the risk terribly. Living with a parent that smokes is a definite risk factor, so the parent can do themselves and the child a favor by quitting or at least not smoking in the same area as the child."

More information

For more on SIDS, visit the U.S. National Library of Medicine.

Read more here:
Gene Might Be a Culprit in Sudden Infant Death for Boys