Mutated melanoma receptor heightens diabetes risk

It turns out that patients with any of four rare mutations in the MT2 gene become 6 times more likely to develop Type 2 diabetes, according to a research study led by Philippe Froguel of the School of Public Health at Imperial College London. The research builds on a 2008 study at the same institution that found that individuals have a slightly higher risk of getting Type 2 diabetes if they have common variations in the MT2 gene. Details of the new study can be found in Nature Genetics.

This is yet another step toward developing personalized treatments. They are still years away, but for patients with Type 2 diabetes that happen to have this particular gene mutation, doctors will theoretically be able to make a more accurate determination as to who will most likely get the disease, and then concoct a treatment unique to the genetic problem. It is, however, the first of many steps toward that goal.

So why is MT2 so important? It's a receptor for melatonin, a hormone that controls a person's sleep and awake cycles. And researchers, the scientists note, already have found that folks who disrupt their sleep cycles for as few as three days develop temporary diabetic symptoms.

This was a massive study, looking at the MT2 gene in 7,632 people with a goal of seeking more unusual genetic variations that could affect risk of getting the disease. From that point it involved paring down the numbers. Researchers identified 40 gene variations connected with Type 2 diabetes. In the lab, they tested them on human cells, and discovered four mutations--the most rare of the bunch--that left the receptor unable to do anything in response to melatonin.

To verify the link, the researchers identified the variations in an additional sample of nearly 12,000 people, and determined that the most rare mutation caused the highest diabetes risk.

- here's the release
- read the journal abstract

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