Snowbirds who flock south in winter in search of the warmth of the sun, listen up:

People who carry a particular gene variant may be more likely to develop an "addiction" to tanning, a preliminary study suggests.

The idea that ultraviolet light can be addictive -- whether from the sun or a tanning bed -- is fairly new. But recent research has been offering biological evidence that some people do develop a dependence on UV radiation, just like some become dependent on drugs.

"It's probably a very small percentage of people who tan that become dependent," said study author Brenda Cartmel, a researcher at the Yale School of Public Health.

But understanding why some people become dependent is important, Cartmel said, so that refined therapies can be developed.

"Ultimately, what we want to do is prevent skin cancer," she said. "We are seeing people getting skin cancer at younger and younger ages, and some of that is definitely attributable to indoor tanning."

In the United States, the rate of melanoma has tripled since 1975 -- to about 23 cases per 100,000 people in 2011, according to government statistics. Melanoma is the least common, but most serious, form of skin cancer.

Cartmel said that, since genes are known to sway the risk of addiction in general, her team wanted to see if there are any gene variants connected to tanning dependence.

So the investigators analyzed saliva samples from 79 people with signs of tanning dependence and 213 people who tanned but were not addicted.

From a starting point of over 300,000 gene variations, the researchers found that just one gene clearly stood out. The two groups differed in variants of a gene called PTCHD2.

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Swiss researchers gave fruit flies an extra copy of a gene known as 'azot' It is thought to kill cells that malfunction to help keep tissues healthy Tissue from flies with the extra gene grew slower, and was healthier The flies also lived between 50 to 60 per cent longer than normal insects Humans also carry the azot gene and the researchers from the University of Bern hope it could be used to develop new anti-aging treatments If it has the same affect in humans, the average lifespan could become 120

By Richard Gray for MailOnline

Published: 12:55 EST, 16 January 2015 | Updated: 14:09 EST, 16 January 2015

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Scientists may have hit upon a new way of extending the lifespan of living organisms - by activating a gene that destroys unhealthy cells.

Researchers at the University of Bern found they were able to help flies live up to 60% longer by increasing the activity of a gene that targets damaged cells.

If this could be transferred to humans, it could extend the average lifespan of people in developed countries like the US and the UK to beyond 120 years old.

The scientists found that a gene called ahuizotl, or 'azot' acts like a sort of cellular quality control, helping to weed out unhealthy or malfunctioning cells. Fruit flies, like the one pictured, were given an extra copy of this gene that targets unhealthy cells. During tests the flies lived 60% longer lives

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Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.

In patients with fragile X, a key gene is completely disabled, eliminating a protein that regulates electrical signals in the brain and causing a host of behavioral, neurological and physical symptoms. This patient, in contrast, had only a single error in this gene and exhibited only two classic traits of fragile X -- intellectual disability and seizures -- allowing the researchers to parse out a previously unknown role for the gene.

"This individual case has allowed us to separate two independent functions of the fragile X protein in the brain," said co-senior author Vitaly A. Klyachko, PhD, associate professor of cell biology and physiology at Washington University School of Medicine in St. Louis. "By finding the mutation, even in just one patient, and linking it to a partial set of traits, we have identified a distinct function that this gene is responsible for and that is likely impaired in all people with fragile X."

The research, appearing in the Proceedings of the National Academy of Sciences (PNAS) Online Early Edition in December and in the print issue Jan. 5, is by investigators at Washington University and Emory University School of Medicine in Atlanta.

In studying fragile X, researchers' focus long has been on the problems that occur when brain cells receive signals. Like radio transmitters and receivers, brain cells send and receive transmissions in fine tuned ways that separate the signals from the noise. Until recently, most fragile X research has focused on problems with overly sensitive receivers, those that allow in too much information. The new study suggests that fragile X likely also causes overactive transmitters that send out too much information.

"The mechanisms that researchers have long thought were the entirety of the problem with fragile X are obviously still very much in play," Klyachko said. "But this unique case has allowed us to see that something else is going on."

The finding also raises the possibility that drugs recently tested as treatments for fragile X may be ineffective, at least in part, because they only dialed down the brain's receivers, presumably leaving transmitters on overdrive.

Fragile X syndrome results from an inherited genetic error in a gene called FMR1. The error prevents the manufacture of a protein called FMRP. Loss of FMRP is known to affect how cells in the brain receive signals, dialing up the amount of information allowed in. The gene is on the X chromosome, so the syndrome affects males more often and more severely than females, who may be able to compensate for the genetic error if their second copy of FMR1 is normal.

Patients with fragile X have a range of symptoms. One of the mysteries of the syndrome is how loss of a single gene can lead to such a variety of effects in different patients. Some patients are profoundly intellectually disabled, unable to talk or communicate. Others are only mildly affected. Patients often experience seizures, anxiety and impulsive behavior. Typical physical symptoms include enlarged heads, flat feet and distinctive facial features. Almost one-third of patients with fragile X also show symptoms of autism spectrum disorders.

To gain insight into what else FMRP might do, the researchers plumbed genetic sequencing data from more than 900 males with intellectual disabilities but without classic fragile X syndrome. They looked for mutations in the FMR1 gene that might impair the protein but not eliminate it entirely. Even in this relatively large sample size, they only found one patient with abnormal FMRP, resulting from a change in a single letter of the gene's DNA code.

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New genetic clues found in fragile X syndrome

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By Dennis Thompson HealthDay Reporter

WEDNESDAY, Jan. 14, 2015 (HealthDay News) -- Researchers have uncovered a major genetic risk for heart failure -- a mutation affecting a key muscle protein that makes the heart less elastic.

The mutation increases a person's risk of dilated cardiomyopathy. This is a form of heart failure in which the walls of the heart muscle are stretched out and become thinner, enlarging the heart and impairing its ability to pump blood efficiently, a new international study has revealed.

The finding could lead to genetic testing that would improve treatment for people at high risk for heart failure, according to the report published Jan. 14 in the journal Science Translational Medicine.

The mutation causes the body to produce shortened forms of titin, the largest human protein and an essential component of muscle, the researchers said in background information.

"We found that dilated cardiomyopathy due to titin truncation is more severe than other forms and may warrant more proactive therapy," said study author Dr. Angharad Roberts, a clinical research fellow at Imperial College London. "These patients could benefit from targeted screening of heart rhythm problems and from implantation of an internal cardiac defibrillator."

About 5.1 million people in the United States suffer from heart failure. One in nine deaths of Americans include heart failure as a contributing cause. And about half of people who develop heart failure die within five years of diagnosis, according to the U.S. Centers for Disease Control and Prevention.

In this study, researchers studied more than 5,200 people, including both healthy people and people suffering from dilated cardiomyopathy. The researchers performed genetic sequencing on all these people, examining the specific gene that the body uses to create titin.

Prior research had found that genetically shortened titin is the major genetic cause of dilated cardiomyopathy, accounting for about 25 percent of severe cases, according to the paper.

However, there are numerous mutations of the titin gene and many never lead to heart failure, so the researchers focused on those variations that occur most often in people with dilated cardiomyopathy.

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Published January 16, 2015

How your immune system does its job seems to depend more on your environment and the germs you encounter than on your genes, says new research that put twins to the test to find out.

After all, the immune system adapts throughout life to fight disease, said Stanford University immunologist Mark Davis, who led the work.

And while young children's immunity may be more influenced by what they inherit from mom and dad, Thursday's study showed genetic influences waned in adulthood.

"Experience counts more and more as you get older," said Davis, director of Stanford's Institute for Immunity, Transplantation and Infection.

Scientists know there is tremendous variation in how the immune systems of healthy people function. Davis asked if that's more a matter of nature or nurture, by comparing 78 pairs of twins with identical genetic makeups to 27 pairs of fraternal twins, who are no more alike genetically than any other siblings. Traits shared by the identical twins are more likely to be hereditary.

His team used blood samples from the twin pairs, who ranged in age from 8 to 82, to track more than 200 activities and components of the immune system. In three-quarters of the measurements, differences between pairs of twins were more likely due to non-heritable influences - such as previous infections or vaccinations, even nutrition - than genetics, the researchers reported in the journal Cell.

Then they compared the oldest twins, 60 and over, to those under age 20, when the immune system is still maturing. The youngest identical twins had far more immune similarity than the oldest. That makes sense, as older twins presumably haven't lived together in years and have had different exposures since childhood, they concluded.

When the researchers gave flu vaccine to participating twins, they found no sign that genetics determined how many flu-fighting antibodies were produced.

Most intriguing, the researchers found infection with a virus so common that most adults unknowingly carry it had a dramatic effect. Cytomegalovirus, or CMV, is dangerous to those with weak immune systems but harmless for most people, and prior research has shown it can rev up parts of a healthy immune system. Sure enough, the Stanford team examined 16 pairs of identical twins where only one had CMV, and found big differences in nearly 60 percent of the components studied.

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IMAGE:The osteochondroretricular stem cell, a newly identified type of bone stem cell that appears to be vital to skeletal development and may provide the basis for novel treatments for osteoarthritis,... view more

Credit: Laboratory of Dr. Timothy Wang

NEW YORK, NY (January 15, 2015) - A stem cell capable of regenerating both bone and cartilage has been identified in bone marrow of mice. The discovery by researchers at Columbia University Medical Center (CUMC) is reported today in the online issue of the journal Cell.

The cells, called osteochondroreticular (OCR) stem cells, were discovered by tracking a protein expressed by the cells. Using this marker, the researchers found that OCR cells self-renew and generate key bone and cartilage cells, including osteoblasts and chondrocytes. Researchers also showed that OCR stem cells, when transplanted to a fracture site, contribute to bone repair.

"We are now trying to figure out whether we can persuade these cells to specifically regenerate after injury. If you make a fracture in the mouse, these cells will come alive again, generate both bone and cartilage in the mouse--and repair the fracture. The question is, could this happen in humans," says Siddhartha Mukherjee, MD, PhD, assistant professor of medicine at CUMC and a senior author of the study.

The researchers believe that OCR stem cells will be found in human bone tissue, as mice and humans have similar bone biology. Further study could provide greater understanding of how to prevent and treat osteoporosis, osteoarthritis, or bone fractures.

"Our findings raise the possibility that drugs or other therapies can be developed to stimulate the production of OCR stem cells and improve the body's ability to repair bone injury--a process that declines significantly in old age," says Timothy C. Wang, MD, the Dorothy L. and Daniel H. Silberberg Professor of Medicine at CUMC, who initiated this research. Previously, Dr. Wang found an analogous stem cell in the intestinal tract and observed that it was also abundant in the bone.

"These cells are particularly active during development, but they also increase in number in adulthood after bone injury," says Gerard Karsenty, MD, PhD, the Paul A. Marks Professor of Genetics and Development, chair of the Department of Genetics & Development, and a member of the research team.

The study also showed that the adult OCRs are distinct from mesenchymal stem cells (MSCs), which play a role in bone generation during development and adulthood. Researchers presumed that MSCs were the origin of all bone, cartilage, and fat, but recent studies have shown that these cells do not generate young bone and cartilage. The CUMC study suggests that OCR stem cells actually fill this function and that both OCR stems cells and MSCs contribute to bone maintenance and repair in adults.

The researchers also suspect that OCR cells may play a role in soft tissue cancers.

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UC Davis to test device that offers new approach to obtaining stem cells during surgery

(SACRAMENTO, Calif.) -- A new device that can rapidly concentrate and extract young cells from irrigation fluid used during orthopaedic surgery holds promise for improving the delivery of stem cell therapy in cases of non-healing fractures. UC Davis surgeons plan to launch a "proof-of-concept" clinical trial to test the safety and efficacy of the device in the coming months.

"People come to me after suffering for six months or more with a non-healing bone fracture, often after multiple surgeries, infections and hospitalizations," said Mark Lee, associate professor of orthopaedic surgery, who will be principal investigator of the upcoming clinical trial. "Stem cell therapy for these patients can be miraculous, and it is exciting to explore an important new way to improve on its delivery."

About 6 million people suffer fractures each year in North America, according to the American Academy of Orthopaedic Surgeons. Five to 10 percent of those cases involve patients who either have delayed healing or fractures that do not heal. The problem is especially troubling for the elderly because a non-healing fracture significantly reduces a person's function, mobility and quality of life.

Stem cells - early cells that can differentiate into a variety of cell types - have been used for several years to successfully treat bone fractures that otherwise have proven resistant to healing. Applied directly to a wound site, stem cells help with new bone growth, filling gaps and allowing healing and restoration of function. However, obtaining stem cells ready to be delivered to a patient can be problematic. The cells ideally come from a patient's own bone marrow, eliminating the need to use embryonic stem cells or find a matched donor.

But the traditional way of obtaining these autologous stem cells - that is, stem cells from the same person who will receive them - requires retrieving the cells from a patient's bone marrow, a painful surgical procedure involving general anesthesia, a large needle into the hip and about a week of recovery.

In addition, the cells destined to become healing blood vessels must be specially isolated from the bone marrow before they are ready to be transplanted back into the patient, a process that takes so long it requires a second surgery.

The device Lee and his UC Davis colleagues will be testing processes the "wastewater" fluid obtained during an orthopaedic procedure, which makes use of a reamer-irrigator-aspirator (RIA) system to enlarge a patient's femur or tibia by high-speed drilling, while continuously cooling the area with water. In the process, bone marrow cells and tiny bone fragments are aspirated and collected in a filter to transplant back into the patient. Normally, the wastewater is discarded.

Although the RIA system filter captures the patient's own bone and bone marrow for use in a bone graft or fusion, researchers found that the discarded effluent contained abundant mesenchymal stem cells as well as hematopoietic and endothelial progenitor cells, which have the potential to make new blood vessels, and potent growth factors important for signaling cells for wound healing and regeneration. The problem, however, was that the RIA system wastewater was too diluted to be useful.

Now, working with a device developed by SynGen Inc., a Sacramento-based biotech company specializing in regenerative medicine applications, the UC Davis orthopaedic team will be able to take the wastewater and spin it down to isolate the valuable stem cell components. About the size of a household coffee maker, the device will be used in the operating room to rapidly produce a concentration of stem cells that can be delivered to a patient's non-union fracture during a single surgery.

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Researchers at the Stanford University School of Medicine have discovered the stem cell in mice that gives rise to bone, cartilage and a key part of bone marrow called the stroma.

In addition, the researchers have charted the chemical signals that can create skeletal stem cells and steer their development into each of these specific tissues. The discovery sets the stage for a wide range of potential therapies for skeletal disorders such as bone fractures, brittle bones, osteosarcoma or damaged cartilage.

A paper describing the findings will be published Jan. 15 in Cell.

"Millions of times a year, orthopedic surgeons see torn cartilage in a joint and have to take it out because cartilage doesn't heal well, but that lack of cartilage predisposes the patient to arthritis down the road," said Michael Longaker, MD, a professor of plastic and reconstructive surgery at Stanford and a senior author of the paper. "This research raises the possibility that we can create new skeletal stem cells from patients' own tissues and use them to grow new cartilage." Longaker is also co-director of the Stanford Institute for Stem Cell Biology and Regenerative Medicine.

An intensive search

The researchers started by focusing on groups of cells that divide rapidly at the ends of mouse bones, and then showed that these collections of cells could form all parts of bone: the bone itself, cartilage and the stroma -- the spongy tissue at the center of bones that helps hematopoietic stem cells turn into blood and immune cells. Through extensive effort, they then identified a single type of cell that could, by itself, form all these elements of the skeleton.

The scientists then went much further, mapping the developmental tree of skeletal stem cells to track exactly how they changed into intermediate progenitor cells and eventually each type of skeletal tissue.

"Mapping the tree led to an in-depth understanding of all the genetic switches that have to be flipped in order to give rise to more specific progenitors and eventually highly specialized cells," said postdoctoral scholar Charles Chan, PhD, who shares lead authorship of the paper with postdoctoral scholar David Lo, MD, graduate student James Chen and research assistant Elly Eun Young Seo. With that information, the researchers were able to find factors that, when provided in the right amount and at the right time, would steer the development of skeletal stem cells into bone, cartilage or stromal cells.

"If this is translated into humans, we then have a way to isolate skeletal stem cells and rescue cartilage from wear and tear or aging, repair bones that have nonhealing fractures and renew the bone marrow niche in those who have had it damaged in one way or another," said Irving Weissman, MD, professor of pathology and of developmental biology, who directs the Stanford Institute for Stem Cell Biology and Regenerative Medicine. Weissman, the other senior author of the paper, also holds the Virginia and Daniel K. Ludwig Professorship in Clinical Investigation in Cancer Research.

Reprogramming fat cells

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"This research raises the possibility that we can create new skeletal stem cells from patients' own tissues and use them to grow new cartilage."

The scientists are hopeful that the breakthrough would allow missing bone parts and cartilage to be grown in a lab and then transplanted, lowering the chance of rejection.

"Right now, if you have lost a significant portion of your leg or jaw bones, you have to borrow from Peter to pay Paul in that you have to cut another bone like the fibula into the shape you need, move it and attach it to the blood supply," said Dr Longaker.

"But if your existing bone is not available or not sufficient, using this research you might be able to put some of your own fat into a biomimetic scaffold, let it grow into the bone you want in a muscle or fat pocket, and then move that new bone to where it's needed."

Scientists are even hopeful that they could coax fat cells into becoming skeleton stem cells which could then be injected into a damaged area during a simple operation. It could be particularly useful in knee and hip operations for the elderly and prevent arthritis.

"The number of skeletal stem cells decreases dramatically with age, so bone fractures or dental implants don't heal very well in the elderly because new bone doesn't grow easily, said lead author Dr Charles Chan.

"But perhaps you will be able to take fat from the patient's body during surgery, combine it with these reprogramming factors right there in the operating room and immediately transplant new skeletal stem cells back into the patient."

Although researchers have so far only mapped the skeletal stem cell system in mice, they are confident that they will be able to do the same in humans.

"In this research we now have a Rosetta Stone that should help find the human skeletal stem cells and decode the chemical language they use to steer their development," added Dr Chan.

"The pathways in humans should be very similar and share many of the major genes used in the mouse skeletal system."

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Broken bones and torn cartilage could be regrown in simple operation

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IMAGE:This image captures a blood stem cell en route to taking root in a zebrafish. view more

Credit: Boston Children's Hospital

BOSTON (January 15, 2015) -- A see-through zebrafish and enhanced imaging provide the first direct glimpse of how blood stem cells take root in the body to generate blood. Reporting online in the journal Cell today, researchers in Boston Children's Hospital's Stem Cell Research Program describe a surprisingly dynamic system that offers several clues for improving bone marrow transplants in patients with cancer, severe immune deficiencies and blood disorders, and for helping those transplants "take."

The steps are detailed in an animation narrated by senior investigator Leonard Zon, MD, director of the Stem Cell Research Program. The Cell version offers a more technical explanation

"The same process occurs during a bone marrow transplant as occurs in the body naturally," says Zon. "Our direct visualization gives us a series of steps to target, and in theory we can look for drugs that affect every step of that process."

"Stem cell and bone marrow transplants are still very much a black box--cells are introduced into a patient and later on we can measure recovery of their blood system, but what happens in between can't be seen," says Owen Tamplin, PhD, the paper's co-first author. "Now we have a system where we can actually watch that middle step. "

The blood system's origins

It had already been known that blood stem cells bud off from cells in the aorta, then circulate in the body until they find a "niche" where they're prepped for their future job creating blood for the body. For the first time, the researchers reveal how this niche forms, using time-lapse imaging of naturally transparent zebrafish embryos and a genetic trick that tagged the stem cells green.

On arrival in its niche (in the zebrafish, this is in the tail), the newborn blood stem cell attaches itself to the blood vessel wall. There, chemical signals prompt it to squeeze itself through the wall and into a space just outside the blood vessel.

"In that space, a lot of cells begin to interact with it," says Zon. Nearby endothelial (blood-vessel) cells wrap themselves around it: "We think that is the beginning of making a stem cell happy in its niche, like a mother cuddling a baby."

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8 hours ago Hematopoietic precursor cells: promyelocyte in the center, two metamyelocytes next to it and band cells from a bone marrow aspirate. Credit: Bobjgalindo/Wikipedia

Researchers at the Stanford University School of Medicine have discovered the stem cell in mice that gives rise to bone, cartilage and a key part of bone marrow called the stroma.

In addition, the researchers have charted the chemical signals that can create skeletal stem cells and steer their development into each of these specific tissues. The discovery sets the stage for a wide range of potential therapies for skeletal disorders such as bone fractures, brittle bones, osteosarcoma or damaged cartilage.

A paper describing the findings will be published Jan. 15 in Cell.

"Millions of times a year, orthopedic surgeons see torn cartilage in a joint and have to take it out because cartilage doesn't heal well, but that lack of cartilage predisposes the patient to arthritis down the road," said Michael Longaker, MD, a professor of plastic and reconstructive surgery at Stanford and a senior author of the paper. "This research raises the possibility that we can create new skeletal stem cells from patients' own tissues and use them to grow new cartilage." Longaker is also co-director of the Stanford Institute for Stem Cell Biology and Regenerative Medicine.

An intensive search

The researchers started by focusing on groups of cells that divide rapidly at the ends of mouse bones, and then showed that these collections of cells could form all parts of bone: the bone itself, cartilage and the stromathe spongy tissue at the center of bones that helps hematopoietic stem cells turn into blood and immune cells. Through extensive effort, they then identified a single type of cell that could, by itself, form all these elements of the skeleton.

The scientists then went much further, mapping the developmental tree of skeletal stem cells to track exactly how they changed into intermediate progenitor cells and eventually each type of skeletal tissue.

"Mapping the tree led to an in-depth understanding of all the genetic switches that have to be flipped in order to give rise to more specific progenitors and eventually highly specialized cells," said postdoctoral scholar Charles Chan, PhD, who shares lead authorship of the paper with postdoctoral scholar David Lo, MD, graduate student James Chen and research assistant Elly Eun Young Seo. With that information, the researchers were able to find factors that, when provided in the right amount and at the right time, would steer the development of skeletal stem cells into bone, cartilage or stromal cells.

"If this is translated into humans, we then have a way to isolate skeletal stem cells and rescue cartilage from wear and tear or aging, repair bones that have nonhealing fractures and renew the bone marrow niche in those who have had it damaged in one way or another," said Irving Weissman, MD, professor of pathology and of developmental biology, who directs the Stanford Institute for Stem Cell Biology and Regenerative Medicine. Weissman, the other senior author of the paper, also holds the Virginia and Daniel K. Ludwig Professorship in Clinical Investigation in Cancer Research.

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Team isolates stem cell that gives rise to bones, cartilage in mice

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FRESNO, Calif. (KFSN) --

Our bodies contain 23 pairs of them, 46 total. But if chromosomesare damaged, they can cause birth defects, disabilities, growth problems, even death.

Case Western scientist Anthony Wynshaw-Boris is studying how to repair damaged chromosomes with the help of a recent discovery. He's taking skin cells and reprogramming them to work like embryonic stem cells, which can grow into different cell types.

"You're taking adult or a child's skin cells. You're not causing any loss of an embryo, and you're taking those skin cells to make a stem cell." Anthony Wynshaw-Boris, M.D., PhD, of Case Western Reserve University, School of Medicine told ABC30.

Scientists studied patients with a specific defective chromosome that was shaped like a ring. They took the patients' skin cells andreprogrammed them into embryonic-like cells in the lab. They found this process caused the damaged "ring" chromosomes to be replaced by normal chromosomes.

"It at least raises the possibility that ring chromosomes will be lost in stem cells," said Dr. Wynshaw-Boris.

While this research was only conducted in lab cultures on the rare ring-shaped chromosomes, scientists hope it will work in patients with common abnormalities like Down syndrome.

"What we're hoping happens is we might be able to use, modify, what we did, to rescue cell lines from any patient that has any severe chromosome defect," Dr. Wynshaw-Boris explained.

It's research that could one day repair faulty chromosomes and stop genetic diseases in their tracks.

The reprogramming technique that transforms skin cells to stem cells was so ground-breaking that a Japanese physician won the Nobel Prize in medicine in 2012 for developing it.

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Stem Cells to Repair Broken Chromosomes: Medicine's Next Big Thing?

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Bethesda, MD (Jan. 15, 2015) -- Defects in the protein Sox10, a transcription factor that regulates gene expression, may play a role in the development of post-operative GI dysfunction in Hirschsprung's disease patients, according to new research1 published in Cellular and Molecular Gastroenterology and Hepatology, the new basic science journal of the American Gastroenterological Association.

Hirschsprung's disease is a congenital disorder caused by the absence of ganglion cells in the colon, which causes problems with passing stool. Hirschsprung's disease is often treated with surgery to bypass or remove the diseased part of the colon. However, despite surgery, many patients still suffer from residual chronic constipation (5 to 33 percent of patients) and decreased bowel function. In addition, a substantial number of patients suffer from painful intestinal inflammation called colitis.

The researchers found that the Sox10Dom mutation, in a mouse model of Hirschsprung disease, disrupts the balance of cell types derived from neural progenitors and affects GI motility in the proximal, ganglionated intestine of adult animals. This is the first report identifying skewed differentiation of neural progenitors and altered GI motility in the small intestine of a Hirschsprung's disease mouse model.

"Our findings partially explain adverse outcomes in surgically treated Hirschsprung's disease patients," said study author E. Michelle Southard-Smith, PhD, associate professor, Department of Medicine, Vanderbilt University Medical Center. "We hope that our research will pave the way for future studies and help clinicians better identify and treat Hirschsprung's disease patients at high risk for experiencing post-surgical GI dysfunction."

Different regions of the intestine in Sox10Dom mutant mice were found to have distinct abnormalities and GI transit assays revealed sex and age dependent effects. "These results suggest that timing and environment play a key role not only in differentiation of neural progenitors, but also ultimately in functional outcomes," added Melissa Musser, medical scientist training program student and first author on the study.

Because Hirschsprung's disease is a multigenic disorder, whereby an independent variant in any one of several genes can produce the absence of ganglion cells, these findings are potentially of broad relevance to other disorders of enteric neuronal development.

Future studies identifying similarities and disparities in outcomes between Hirschsprung's disease mutant models should help elucidate exactly when and where Hirschsprung's disease genes act within gene pathways.

"This research provides new understanding of processes required for development of nerves and associated cell types that might be impaired in diseases associated with defective enteric nervous system function," said Jerrold Turner, MD, PhD, AGAF, editor-in-chief of Cellular and Molecular Gastroenterology and Hepatology. "Continued research in this area will ultimately lead to improved diagnostic and therapeutic approaches for patients suffering from these debilitating conditions."

This work was funded by March of Dimes FY12-450, NIH R01 DK60047, NIH F30 DK096831, VICTR award from NIH CTSA award No. UL1TR000445, T32 GM07347 NIGMS to the Vanderbilt Medical-Scientist Training Program.

AGA announced http://www.gastro.org/news/articles/2014/11/03/aga-introduces-new-journal-cellular-and-molecular-gastroenterology-and-hepatology the launch of Cellular and Molecular Gastroenterology and Hepatology in November 2014. This study appears in the inaugural issue http://intranet.gastro.org/dms/organization/Communications/MediaRelations/Journals/ww.cmghjournal.org/current> of the journal.

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Defects in the protein Sox10, a transcription factor that regulates gene expression, may play a role in the development of post-operative GI dysfunction in Hirschsprung's disease patients, according to new research1 published in Cellular and Molecular Gastroenterology and Hepatology, the new basic science journal of the American Gastroenterological Association.

Hirschsprung's disease is a congenital disorder caused by the absence of ganglion cells in the colon, which causes problems with passing stool. Hirschsprung's disease is often treated with surgery to bypass or remove the diseased part of the colon. However, despite surgery, many patients still suffer from residual chronic constipation (5 to 33 percent of patients) and decreased bowel function. In addition, a substantial number of patients suffer from painful intestinal inflammation called colitis.

The researchers found that the Sox10Dom mutation, in a mouse model of Hirschsprung disease, disrupts the balance of cell types derived from neural progenitors and affects GI motility in the proximal, ganglionated intestine of adult animals. This is the first report identifying skewed differentiation of neural progenitors and altered GI motility in the small intestine of a Hirschsprung's disease mouse model.

"Our findings partially explain adverse outcomes in surgically treated Hirschsprung's disease patients," said study author E. Michelle Southard-Smith, PhD, associate professor, Department of Medicine, Vanderbilt University Medical Center. "We hope that our research will pave the way for future studies and help clinicians better identify and treat Hirschsprung's disease patients at high risk for experiencing post-surgical GI dysfunction."

Different regions of the intestine in Sox10Dom mutant mice were found to have distinct abnormalities and GI transit assays revealed sex and age dependent effects. "These results suggest that timing and environment play a key role not only in differentiation of neural progenitors, but also ultimately in functional outcomes," added Melissa Musser, medical scientist training program student and first author on the study.

Because Hirschsprung's disease is a multigenic disorder, whereby an independent variant in any one of several genes can produce the absence of ganglion cells, these findings are potentially of broad relevance to other disorders of enteric neuronal development.

Future studies identifying similarities and disparities in outcomes between Hirschsprung's disease mutant models should help elucidate exactly when and where Hirschsprung's disease genes act within gene pathways.

"This research provides new understanding of processes required for development of nerves and associated cell types that might be impaired in diseases associated with defective enteric nervous system function," said Jerrold Turner, MD, PhD, AGAF, editor-in-chief of Cellular and Molecular Gastroenterology and Hepatology. "Continued research in this area will ultimately lead to improved diagnostic and therapeutic approaches for patients suffering from these debilitating conditions."

Story Source:

The above story is based on materials provided by American Gastroenterological Association. Note: Materials may be edited for content and length.

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Hirschsprung's disease: Research offers novel insight

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Up to 8 percent of people from India, Pakistan, Bangladesh and other South Asian countries carry a mutated gene that causes heart failure and potentially fatal heart attacks.

A new study demonstrates how this gene mutation impairs the heart's ability to pump blood. Results could point the way to eventual treatments and prevention strategies for an estimated 55 million people of South Asian descent worldwide, including 200,000 people in the United States, who carry the potentially fatal mutation.

The study, led by Sakthivel Sadayappan, PhD, MBA, of Loyola University Chicago Stritch School of Medicine, is published in theJournal of Biological Chemistry, a publication of the American Society for Biochemistry and Molecular Biology.

The mutation causes hypertrophic cardiomyopathy, the most common form of inherited cardiac disease and the leading cause of sudden cardiac death in young people. Previous studies by Dr. Sadayappan and other researchers have found that between 5 percent and 8 percent of South Asians carry the mutation. Carriers have about a 80 percent chance of developing heart failure after age 45. Dr. Sadayappan first reported the mutation in 2001 at the World Congress of the International Society for Heart Research, and has been studying it ever since. He said that, based on a report from one of his collaborators, the mutation likely arose in a single person roughly 33,000 to 55,000 years ago. The mutation then spread throughout South Asia.

The mutated gene encodes for a protein, called cardiac myosin binding protein-C (cMyBP-C), that controls cardiac muscle contractions and is critical for the normal functioning of the heart. In the mutated gene, 25 base pairs (DNA letters) are missing. As a result, the tail end of the protein is altered.

In his new study, Dr. Sadayappan and colleagues introduced the mutated gene into adult rat cardiomyocytes (heart muscle cells) in a petri dish. These cells were compared with cardiomyocytes that received a normal gene.

In cells with the mutant gene, the cMyBP-C protein was not incorporated into sarcomeres, the basic units of heart muscle. So rather than helping the sarcomeres contract properly, the mutant protein floated around the cell's cytoplasm, producing a toxic effect. The study showed, for the first time, that expression of the mutant protein is sufficient to cause cardiac dysfunction.

The findings point the way toward future treatments that would remove the mutant protein from cells and introduce normal cMyBP-C protein. Researchers also hope to identify lifestyle and environmental risk factors that aggravate hypertrophic cardiomyopathy in people who carry the gene mutation.

Dr. Sadayappan and colleagues concluded that determining the disease mechanism will help in developing therapies, and is the "first priority to prevent the development of heart failure in millions of carriers worldwide."

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Up to eight percent of Asians carry gene mutation that causes heart failure

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The BMI1 gene has been previously linked to the body's ability to regenerate tissue cells in areas such as blood or skin.

Led by Queen Mary University of London and published in the Journal of Experimental Medicine, the study provides the first proof of concept that manipulating the activity of this gene enhances the regeneration of the dystrophic muscle to a level where strength is visibly improved. For example, the mice were able to run on a treadmill for a longer time period and at a faster pace.

This line of research will now be further developed and scientists aim to one day apply the treatment to patients with chronic muscle wasting such as muscular dystrophy.

Muscular dystrophy is a devastating and incurable condition. Duchenne Muscular Dystrophy -- the deadliest form of the muscle-wasting disease -- is caused by mutations in a gene which eventually cause muscle fibres to become damaged and waste away.

Duchenne Muscular Dystrophy is characterised by repeated cycles of muscle damage and repair, resulting in exhaustion of the muscle repair cells. It affects one in 3,500 boys and normally proves fatal by early adulthood.

Professor Silvia Marino, Lead Author, Queen Mary University of London, comments: "This study has given us the first 'proof of concept' that harnessing the gene BMI1 can significantly enhance the regeneration of dystrophic muscles to a level where strength is visibly improved. We plan to continue our research and hope to establish whether this concept can be successfully applied to patients with muscular dystrophy, but possibly other degenerative conditions or even traumatic muscle damage."

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The above story is based on materials provided by Queen Mary, University of London. Note: Materials may be edited for content and length.

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Hope for muscular dystrophy patients: Harnessing gene helps repair muscle damage

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WASHINGTON - Scientists are unraveling a mystery behind a fairly common disease that leads to heart failure: Why do some people with a key mutated gene fall ill while others stay healthy?

Researchers tested more than 5,200 people to tease apart when mutations really are harmful or are just bystanders. The work could help in screening families prone to heart failure but also has broader implications as more people undergo genetic tests that can turn up unnecessarily worrying results.

Heart failure, when the heart cannot pump blood properly, is caused by a variety of conditions, including damage from heart attacks. But one trigger is dilated cardiomyopathy, a condition that makes the heart's muscle walls stretch out of shape, becoming progressively weaker. It can run in families, but often there's no obvious cause.

Titin is a protein that gives muscle tissue, including heart muscle, its elasticity. In 2012, researchers reported that gene mutations that make that protein shorter, or truncated, were a common cause of dilated cardiomyopathy, accounting for a quarter of cases. The problem: A lot of healthy people also harbour mutations in that stretchy muscle protein, yet some gene tests already look for the glitches.

So a British-led research team mapped the titin-producing gene in 5,267 people, ranging from the healthy to the seriously ill. Where the DNA glitches are located in this huge gene is key, the team reported Wednesday in the journal Science Translational Medicine.

Mutations that caused dilated cardiomyopathy are located at one end of the gene sequence, while mutations in healthy people occur in other spots apparently less important for heart muscle, they reported.

Another discovery: Titin-caused cardiomyopathy is more severe than other forms of the disease, said lead researcher Angharad Roberts of Imperial College London. Those patients are more likely to suffer life-threatening irregular heartbeats, suggesting doctors might use genetic testing to guide therapy including when to implant defibrillators.

Somehow, this truncated protein is poisoning heart muscle cells, the researchers concluded.

When cardiomyopathy runs in the family, close relatives get regular heart screening to see whether they're developing it, too. The researchers said finding which kind of mutation family members harbour could help narrow who's really at risk but it would take more in-depth genetic testing than is routine today.

"In an era where genetic testing and genome sequencing is increasingly available, more and more titin mutations will be identified, often as incidental findings," Roberts said. "Accurate interpretation of these results is vital to avoid unnecessary follow-up and anxiety."

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Scientists tease apart which gene glitches signal inherited heart risk

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Genetic Engineering Process
Created using PowToon -- Free sign up at http://www.powtoon.com/join -- Create animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool...

By: Sanaa Ghani

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Genetic Engineering Process - Video

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IMAGE:Violence and Gender is the only peer-reviewed journal focusing on the understanding, prediction, and prevention of acts of violence. Through research papers, roundtable discussions, case studies, and other... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, January 15, 2015-Zehaf-Bibeau, the Islamist convert who recently killed a Canadian military reservist on duty in Ottawa, Canada, represents a type of attacker rarely discussed--a person so obsessed with an overvalued idea that it defines their identity and leads them to commit violence without regard for the consequences. Although it appears that the assailants in Paris had more ties with terrorist organizations, the individuals still fit the description of people acting on overvalued ideas. This emerging, and likely growing phenomenon is explored in the article, published in the Perspectives section of the journal, "Lone Wolf Killers: A Perspective on Overvalued Ideas," published in the peer-reviewed journal Violence and Gender, from Mary Ann Liebert, Inc., publishers.

The article is available free on the Violence and Gender website.

Author Matthew H. Logan, PhD, a 28-year veteran officer with the Royal Canadian Mounted Police (RCMP), as well as an RCMP Criminal Investigative Psychologist (ret.), Ontario, Canada, explains that these killers do not always work alone, stating that "in the future I believe we will see more 'packs' of these wolves as they unite on common beliefs and themes."

"The violence we witnessed in Paris just days ago shook the world," says Violence and Gender Editor-in-Chief Mary Ellen O'Toole, PhD, Forensic Behavioral Consultant and Senior FBI Profiler/Criminal Investigative Analyst (ret.). "It was coldblooded, purposeful, and seemingly without remorse, driven by a unique self-righteous ideation of the killers. Dr. Matt Logan explains the 'motivating mindset' of young male offenders, sometimes loners and sometimes part of a group, whose 'overvalued ideas' combined with their own psychopathology is what motivates them to engage in this type of terror. 'Overvalued ideas do not constitute mental illness,' according to Dr. Logan, which makes this senseless, savage violence seem even more chilling and despicable."

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About the Journal

Violence and Gender is the only peer-reviewed journal focusing on the understanding, prediction, and prevention of acts of violence. Through research papers, roundtable discussions, case studies, and other original content, the Journal critically examines biological, genetic, behavioral, psychological, racial, ethnic, and cultural factors as they relate to the gender of perpetrators of violence. Led by Editor-in-Chief Mary Ellen O'Toole, PhD, Forensic Behavioral Consultant and Senior FBI Profiler/Criminal Investigative Analyst (ret.), Violence and Gender explores the difficult issues that are vital to threat assessment and prevention of the epidemic of violence. Violence and Gender is published quarterly online with Open Access options and in print, and is the official journal of The Avielle Foundation. Tables of content and a sample issue may be viewed on the Violence and Gender website.

About the Publisher

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What drives killers like the Ottawa or Paris attackers?

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Autism spectrum disorders (ASD) affect 1 to 2 percent of children in the United States. Hundreds of genetic and environmental factors have been shown to increase the risk of ASD. Researchers at UC San Diego School of Medicine previously reported that a drug used for almost a century to treat trypanosomiasis, or sleeping sickness, reversed environmental autism-like symptoms in mice.

Now, a new study published in this week's online issue of Molecular Autism, suggests that a genetic form of autism-like symptoms in mice are also corrected with the drug, even when treatment was started in young adult mice.

The underlying mechanism, according to Robert K. Naviaux, MD, PhD, the new study's principal investigator and professor of medicine at UC San Diego, is a phenomenon he calls the cellular danger response (CDR). When cells are exposed to danger in the form of a virus, infection, toxin, or even certain genetic mutations, they react defensively, shutting down ordinary activities and erecting barriers against the perceived threat. One consequence is that communication between cells is reduced, which the scientists say may interfere with brain development and function, leading to ASD.

Researchers treated a Fragile X genetic mouse model, one of the most commonly studied mouse models of ASD, with suramin, a drug long used for sleeping sickness. The approach, called antipurinergic therapy or APT, blocked the CDR signal, allowing cells to restore normal communication and reversing ASD symptoms.

"Our data show that the efficacy of APT cuts across disease models in ASD. Both the environmental and genetic mouse models responded with a complete, or near complete, reversal of ASD symptoms," Naviaux said. "APT seems to be a common denominator in improving social behavior and brain synaptic abnormalities in these ASD models."

Weekly treatment with suramin in the Fragile X genetic mouse model was started at nine weeks of age, roughly equivalent to 18 years in humans. Metabolite analysis identified 20 biochemical pathways associated with symptom improvements, 17 of which have been reported in human ASD. The findings of the six-month study also support the hypothesis that disturbances in purinergic signaling - a regulator of cellular functions, and mitochondria (prime regulators of the CDR) - play a significant role in ASD.

Naviaux noted that suramin is not a drug that can be used for more than a few months without a risk of toxicity in humans. However, he said it is the first of its kind in a new class of drugs that may not need to be given chronically to produce beneficial effects. New antipurinergic medicines, he said, might be given once or intermittently to unblock metabolism, restore more normal neural network function, improve resilience and permit improved development in response to conventional, interdisciplinary therapies and natural play.

"Correcting abnormalities in a mouse is a long way from a cure in humans," cautioned Naviaux, who is also co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego, "but our study adds momentum to discoveries at the crossroads of genetics, metabolism, innate immunity, and the environment for several childhood chronic disorders. These crossroads represent new leads in our efforts to understand the origins of autism and to develop treatments for children and adults with ASD."

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Co-authors include Jane C. Naviaux, Lin Wang, Kefeng Li, A. Taylor Bright, William A. Alaynick, Kenneth R. Williams and Susan B. Powell, all at UC San Diego.

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Century-old drug reverses autism-like symptoms in fragile X mouse model

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Genetics Immortality

By: Nim Mur

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Mower Genetics - Dal M.Box report
Klony jsou dlan s rozestupem jednoho tdne SAGE LAC.

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The Case For Logical Accountability: E1 "Creationist On Genetics"
[1] Laura Wegener Parfrey et al. (2008). "The Dynamic Nature of Eukaryotic Genomes". Molecular Biology and Evolution 25: 787794. [2] Martin Hanczyc: The Line Between Life and Not-life;...

By: EssenceOfThought

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The Case For Logical Accountability: E1 "Creationist On Genetics" - Video

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Plant Genetics for Teachers
Teachers covering agriculture can learn a lot from UNL #39;s courses, including practical examples of how plant genetics feeds the world.

By: Plant Genetics University of Nebraska-Lincoln

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Award recognizes outstanding contributions to the community of genetics researchers

BETHESDA, MD - The Genetics Society of America (GSA) is pleased to announce that John H. Postlethwait, PhD (University of Oregon) has been selected to receive the Society's George W. Beadle Award for outstanding contributions to the community of genetics researchers. The award, whose namesake was a Nobel laureate and geneticist, recognizes Dr. Postlethwait's seminal contributions to the zebrafish community. Dr. Postlethwait will receive the honor next week at GSA's 6th Strategic Conference of Zebrafish Investigators, January 17-21, in Pacific Grove, CA.

"Dr. Postlethwait's work began the molecular genetic era of zebrafish research and has helped to demystify the evolution of genes and genomes," said Alex Schier, PhD, Leo Erikson Life Sciences Professor and Chair of Molecular and Cellular Biology at Harvard University, and an organizer of next week's conference. "He has also strengthened the zebrafish community through his generous data sharing, collaborative spirit, and help for dozens of labs in mutation and gene mapping."

One of Dr. Postlethwait's most valuable contributions to the zebrafish community was his groundbreaking research that established this organism as a model system for vertebrate genetics. He built the first genetic map for zebrafish, which spurred the discovery and functional characterization of numerous genes involved in development, and showed that the zebrafish genome, along with that of distantly related teleost fish, had been duplicated. The Duplication-Degeneration-Complementation (DDC) model he proposed was a major conceptual advance that yielded insight into the mechanisms governing the evolutionary fate of duplicated genes. Dr. Postlethwait played an integral role in the zebrafish genome sequencing project, and his additional work has elucidated the genomic organization of several fish species. Recently, his research revealed that the zebrafish strains used in laboratories lack the natural sex determination system of their wild counterparts. His current research also focuses on the evolution of vertebrate genomes and the search for therapies in zebrafish models of disease. In addition to his technological, conceptual, and research contributions to the community, Dr. Postlethwait is especially honored for his active involvement with the zebrafish community, advocacy for zebrafish as a model system, and commitment to driving the field of zebrafish genetics forward.

Dr. Postlethwait has authored nearly 250 scientific publications as well as several biology textbooks. Early in his career, he received a Research Career Development Award from the National Institutes of Health as well as the Ersted Award for Distinguished Teaching from the University of Oregon. In 2007, he received the Medical Research Foundation Discovery Award for significant, original contributions to health-related research and the Oregon Discovers Achievement Award. In 2009, Dr. Postlethwait received the Humboldt Research Award to study mechanisms involved in Fanconi anemia.

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The George W. Beadle Award, established by GSA in 1999, honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake as a respected academic, administrator, and public servant. Beadle (1903-1989) served as the President of GSA in 1946; he was awarded the 1958 Nobel Prize in Physiology or Medicine for his work with Edward L. Tatum in discovering that genes act by regulating definite chemical events.

To learn more about the GSA awards, and to view a list of previous recipients, please see http://www.genetics-gsa.org/awards.

About the Genetics Society of America (GSA)

Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Society's more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

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Genetics Society of America names John Postlethwait as recipient of George W. Beadle Award

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