Rare Gene Mutation That Can Reduce Risk of Type 2 Diabetes Identified

A rare gene mutation that can reduce the risk of type 2 diabetes, even in old and obese people, has been identified by Washington University School of Medicine researchers.

Researchers will now begin work on developing a new drug that mimics the effect of this mutation so that it can be used to prevent and control type 2 diabetes, even among people who are at a higher risk of the disease.

Reportedly, the effects of the mutation reduce the risk of diabetes by two-thirds.

Rare mutations in a gene called SLC30A8 destroy ZnT8, a gene used by pancreas cells where insulin is made. Those with the mutation seem to make slightly more insulin and have slightly lower blood glucose levels for their entire lives, according to the NY Times.

The mutation is so rare that researchers were able to discover it only after analyzing 150,000 patients. However, the discovery did come as a surprise to the researchers because the same mutation that protects people from diabetes had the completely opposite effect on mice. It increases the risk of diabetes in the animal.

Pfizer and Amgen are the two companies that have started work on developing the new drug though they cautioned that it will be about 10 to 12 years before a drug is finally ready and available in the market, according to Business Standards.

The discovery was a result of a study conducted four years ago where researchers attempted to look for gene mutations that protect against diabetes. The study was conducted on 28,000 people from Finland and Sweden. Data collected included the participants' age, weight and disease records, including diabetes. This data was then compared to the data of people at either end of the spectrum of diabetes risk. The first group included 352 people who had type 2 diabetes and had an average age of 50. They didn't smoke and were lean. The other group comprised of 406 people with an average age of 80. They were completely opposite of the first group.

Researchers noted that two people in the second group who were slightly obese and were older were free of diabetes as a mutation had destroyed one copy of their ZnT8 gene. This led researchers to conduct another study on 18,000 people in Sweden, fat and thin, old and young, with diabetes and without. They found another 31 people who seemed protected from diabetes and had mutations that had destroyed the ZnT8 gene.

The next step for researchers was to determine if the mutation had any adverse effects on a person's health. So far, none have been discovered. However, further studies are being conducted on the same.

According to statistics by CDC, 25.8 million children and adults in the United States have diabetes. Medical costs incurred by the country are approximately $245 billion per year. Current first-line treatment for type 2 diabetes is diet, weight control and physical activity

The study was funded by Already Pfizer, the multinational pharmaceutical corporation. The findings have been published in the journal, Nature Genetics.

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