09 July 2020
Genetic mutations reduces risk of diabetes
Published online 20 March 2014
Scientists have discovered that several mutations capable of abolishing the function of a certain gene, known as loss-of-function mutations, can reduce a person's risk for type 2 diabetes.
In a new study published in Nature Genetics, a team of researchers, led by David Altshuler from the Broad Institute of Harvard and MIT in Massachusetts, and Jaakko Tuomilehto from King Abdulaziz University in Saudi Arabia, sequenced the genes of 150,000 patients from five ethnic groups.
The team found 12 protective loss-of-function mutations in SLC30A8, a gene that encodes zinc transporter 8 (ZnT8), a protein responsible for the uptake of zinc by the insulin-producing beta cells and subsequently the efficient storage of insulin. Contrary to previous studies on mice suggesting that SLC30A8 mutations may increase the risk of diabetes, the researchers found that people with these mutations have a 65% reduced risk for diabetes. In Icelandic populations, one such mutation was also found to lower blood sugar in non-diabetics.
Although it remains unknown how the reduction in ZnT8 functions plays this protective role, the researchers hope the discovery will help motivate future studies on ZnT8-inhibiting drugs that may serve as prospective treatment for type 2 diabetes in humans.
- Flannick, J. et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genet. doi:10.1038/ng.2915 (2014)