Single gene cause of insulin sensitivity may offer insight for treating diabetes

Posted: September 12, 2012 at 11:21 pm

Public release date: 12-Sep-2012 [ | E-mail | Share ]

Contact: University of Oxford press office press.office@admin.ox.ac.uk 44-186-528-0530 University of Oxford

The first single gene cause of increased sensitivity to the hormone insulin has been discovered by a team of Oxford University researchers.

The opposite condition insulin resistance is a common feature of type 2 diabetes, so finding this cause of insulin sensitivity could offer new opportunities for pursuing novel treatments for diabetes.

Although mutations in the PTEN gene cause a rare condition with increased risk of cancer, the biological pathways the gene is involved in could offer promising targets for new drugs.

The Oxford University researchers, along with colleagues at the Babraham Institute in Cambridge, UK, and the Churchill Hospital in Oxford, UK, report their findings in the New England Journal of Medicine. The study was funded by the Wellcome Trust, the Medical Research Council, the National Institute for Health Research Oxford Biomedical Research Centre, and the Biotechnology and Biological Sciences Research Council.

'Insulin resistance is a major feature of type 2 diabetes,' says Dr Anna Gloyn of the Oxford Centre for Diabetes, Endocrinology and Metabolism at the University of Oxford, who led the work. 'The insulin-producing cells in the pancreas may be working hard and pumping out lots of insulin, but the body's cells no longer respond.

'Finding a genetic cause of the opposite insulin sensitivity gives us a new window on the biological processes involved. Such understanding could be important in developing new drugs that restore insulin sensitivity in type 2 diabetes.'

The PTEN gene encodes for an enzyme that is part of the insulin signalling pathway in the body. It is known to have a role in controlling the body's metabolism, and to play a part in cell growth. The Oxford team was interested in learning more about this dual role.

There is an inherited genetic condition called Cowden syndrome caused by faults in the PTEN gene. It is very rare and is thought to affect perhaps one in 200,000 people, with around 300 people with the condition in the UK. PTEN's role in cell growth sees people with Cowden syndrome develop many benign polyps in their skin, mouth and bowel, and have a higher risk than the general population of developing breast cancer, thyroid cancer and womb cancer.

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Single gene cause of insulin sensitivity may offer insight for treating diabetes

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