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Mutation Kills Off Gene Responsible For Type 2 Diabetes

Update Date: Mar 03, 2014 10:20 AM EST

A rare mutations in a gene has been identified by researchers at the Broad Institute and Massachusetts General Hospital that can reduce the risk of developing type 2 diabetes. The mutations are also effective for people who have risk factors like obesity and old age. 

The research might lead to the development of a drug that could mimic the protective effect of these mutations. Researchers believed the results could open new ways of preventing this devastating disease. Type 2 diabetes affects more than 300 million people worldwide and is rising everyday. 

The research has described the genetic analysis of 150,000 patients that showed the rare mutations in a gene called SLC30A8 reduced the risk of type 2 diabetes by 65 percent. Researchers also observed that the results were identical on different ethnic groups suggesting that the drug that mimic the effect of such mutations might have same effect throughout the world. 

"This work underscores that human genetics is not just a tool for understanding biology: it can also powerfully inform drug discovery by addressing one of the most challenging and important questions-knowing which targets to go after," said co-senior author David Altshuler, deputy director and chief academic officer at the Broad Institute and a Harvard Medical School professor at Massachusetts General Hospital in the press release. 

The use of human genetics to identify protective mutations carries great potential. Previously, mutations in a gene called CCR5 were found to protect against infections with HIV - the virus responsible for AIDS. Now drugs are available to block the CCR5 protein. 

"Through this partnership, we have been able to identify genetic mutations related to loss of gene function, which are protective against type 2 diabetes," said Tim Rolph, Vice President and Chief Scientific Officer of Cardiovascular, Metabolic & Endocrine Disease Research at Pfizer Inc in the press release. "Such genetic associations provide important new insights into the pathogenesis of diabetes, potentially leading to the discovery of drug targets, which may result in a novel medicine."

The research has been funded in part by Pfizer Inc.. 

The diabetes study is appearing this week in Nature Genetics. 

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