Study Identifies Gene Mutation that Helps Prevent Type-2 Diabetes

Rare genetic mutation helps reduce the risk of type-2 diabetes by two-thirds among old and obese people, according to a study.

Researchers from the Broad Institute and Washington University School of Medicine, after analyzing nearly 150,000 patients, discovered a rare mutation in the gene called SLC30A8. This gene reduces the risk of type-2 diabetes by 65 percent. The study had earlier used a mice model and showed conflicting result.

David Altshuler, senior author and professor at Massachusetts General Hospital said, "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," reports ScienceDaily.

The research used a next-generation sequencing to identify rare mutations that cut the risk for diabetes among people with advanced age and obesity. It included nearly 28,000 people from Finland and Sweden whose data on age, weight and disease were recorded to compare to the risks for type-2 diabetes. The participants were divided in two groups. The first had 352 people with diabetes aged almost 50, who were lean and didn't have smoking habits. The second group had 406 aged 80 on an average who were slightly overweight and smoked regularly. These people did not have diabetes.          

It was found that the participants in the second group had the mutation which destroyed one copy of the type-2 diabetes gene. Further analysis reported 31 more people carrying the mutation. The authors noted no damaging effects of the mutations.    

Type-2 diabetes or diabetes mellitus is a metabolic disorder categorized by high sugar levels in the blood and lack of insulin and accounts for nearly 90 to 95 percent of all diagnosed cases of diabetes. According to the data by the Centers for Disease Control and Prevention (CDC), diabetes affects nearly 25.8 million people in the U.S. The disease is the seventh leading cause of death and is often associated with various health issues like kidney-failure, heart diseases and stroke.

The research was funded by Already Pfizer, a leading pharmaceutical company and is available in the journal Nature Genetics.