Gene mutations could protect against diabetes

Researchers from the Broad Institute and Massachusetts General Hospital have pinpointed specific gene mutations that might have protective properties against the development of type 2 diabetes.

If these mutations could be mimicked in a therapeutic drug, preventing the blood sugar condition might be possible – even in people who have diabetes risk factors, like obesity or old age.

Genetic basis identified

The study included genetic analysis of 150,000 patients, showing that rare mutations in a gene called SLC30A8 reduced the risk of type 2 diabetes by 65 percent. The results held up even in subjects from different ethnic groups, the researchers noted, suggesting that a drug therapy designed to copy the effects of these mutations could act as a worldwide type 2 diabetes prevention solution.

"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.

SLC30A8 has been previously linked to insulin-secreting beta cells in the pancreas, but researchers were unclear how inhibiting or activating the protein of the gene would affect disease risk or development – until now.

Gene research could lead to drug

The study, which was part of a widely collaborative research project that started in 2009, included people with extreme risk factors for type 2 diabetes but who never developed the disease.

Over the past several years, researchers found that over 10 mutations of the same SLC30A8 gene would cause a protective effect against type 2 diabetes – which means that inheriting just one copy of SLC30A8 mutation might reduce diabetes risk by 65 percent.

"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," said Tim Rolph, Vice President and Chief Scientific Officer of Cardiovascular, Metabolic & Endocrine Disease Research at Pfizer Inc.

Results of the study are published in the journal Nature Genetics.

Source: Science Daily
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