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New insight into genetic cause of insulin sensitivity

The first single gene cause of increased sensitivity to the hormone insulin.

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,a university release said.

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 and the Churchill Hospital in Oxford,reported their findings in the New England Journal of Medicine.

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“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.

She added: “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 signaling 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.


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.

The team carried out glucose tolerance tests with 15 people with Cowden syndrome and 15 matched controls.

Those with Cowden syndrome had significantly higher insulin sensitivity.

In collaboration with their colleagues at the Babraham Institute,the team showed that this was caused by increased activity in the insulin signalling pathway.

The researchers also noticed that the body mass index of those with Cowden syndrome appeared greater than the controls.

They carried out a comparison with a much larger control group of over 2,000 individuals from the Oxford Biobank,a data and tissue resource for research.


This confirmed that those with Cowden syndrome had higher levels of obesity as a group than the controls.

The extra body weight appeared to be caused by extra fat,and there were no differences in where the fat was stored compared to controls.

First published on: 13-09-2012 at 16:49 IST
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