Type 2 Diabetes: Protective Mutation Gene Identified

Type 2 Diabetes: Protective Mutation Gene Identified

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Type 2 Diabetes affects over 300 million people globally and that number increases every year. While many people can adjust their lifestyles or even take medication to control diabetes, there is no cure for diabetes as a whole. However, medical science has come far in recent years in finding a better way to manage blood sugar.

Now, researchers at Broad Institute and Massachusetts General Hospital are looking into protective mutation gene therapy, which could be the answer to put a stop to diabetes before it even starts.

Different mutations within a gene could help to lower the risk of a person developing type 2 diabetes, even for those who have other risk factors such as old age or are obese. If a drug can be developed that would essentially mimic the protective effect a particular type of mutation, it could open up a whole new world of healing possibilities for diabetic patients and those who are at risk for diabetes.

Within this study, researchers describe a genetic analysis of 150,000 patients, which all showing rare mutations in a gene called SLC30A8 can reduce the risk of type 2 diabetes by 65 percent. This study was completed on groups of different ethnics, which means that this could be a global treatment. The rare mutations in this gene referred to as SLC30A8 has shown an important role in insulin-secreting beta cells of the pancreas. However, the protein encoded by SLC30A8 is also known to increase the risk of type 2 diabetes. It is not very clear as to whether activating the protein would be best for decreasing the diabetes risk or not.

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. 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.”

The possibilities in using human genetics to identify protective mutations are endless and can provide a great deal of help now and in the future. In the past, mutations in a gene called CCR5 were helpful in protecting against HIV infections, the virus that causes aids. Other mutations in genes referred to as PCSK9, have found to fight against heart disease and lower cholesterol levels and now researchers have identified mutations in genes that can help to lower the risk of developing type 2 diabetes.

“This remarkable collaboration involved many partners who are fully dedicated to the pursuit of therapies for type 2 diabetes,” said Altshuler. “It’s amazing to see what can be learned when everyone works together.”

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