Could a Gene Mutation Prevent Type 2 Diabetes?

A rare gene mutation may be responsible for a reduced risk of type 2 diabetes, even in old and obese patients, according to researchers from the Washington University School of Medicine.

The study authors recently identified the gene while working on the development of a new drug that mimics the effect of the mutation so that it can be used to prevent and control type 2 diabetes, even among individuals that are at a higher risk for the disease.

This rare mutation is a gene called SLC30A8 and can lower diabetes type-2 risk by as much as 65 percent, according to study results. Inheriting one copy of the defective gene is enough to lower diabetes type-2 risk by 65 percent.

"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 David Altshuler, at Massachusetts General Hospital, one of the study authors.

Yet the mutation itself is so rare that researchers have only discovered it after analyzing 150,000 patients. As the same mutation protects people from diabetes, it has the completely opposite effect on mice and could potentially increase the risk of the disease in certain animals.

For the study, which was conducted four years ago, researchers attempted to look for the gene mutation that protects against diabetes. The study was conducted on 28,000 people from Finland and Sweden, with data that included the particpants' age, weight and disease records, as well as history of diabetes. This data was then compared to diabetes risk. The first group consisted of 352 people who had type 2 diabetes while the second group consisted of 406 people with an average age of 80. All of whom were completely opposite of the first group.

Researchers noted that two people in the second group who were slightly obese and older were free of the diabetes mutation also had destroyed one copy of their ZnT8 gene-a gene that's used by pancreas cells where insulin is made, according to The New York Times. 

After this, researchers conducted another study based on 18,000 people in Sweden of a range of sizes, both young and old, with and without diabetes. They found that another 31 people who seemed protected from diabetes also had mutations that destroyed the ZnT8 gene.

For the next step, researchers hope to determine if the mutation has any adverse effects on individuals health. At this point, none has been discovered.

More information regarding the study can be found via the journal Nature Genetics.