Gene Mutation May Guard Against Diabetes
Researchers have discovered a genetic mutation that may prevent type 2 diabetes from developing, even in patients at high risk for the disease.
Using this discovery, researchers hope to identify a “drug target,” allowing them to develop a new strategy for prevention and treatment of the disease.
In a genetic analysis of 150,000 patients, an international team of researchers followed select participants who, despite severe risk for diabetes, never developed the disease.
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Focusing on a gene previously identified to play a role in the development of diabetes, researchers used new forms of genetic sequencing to search for mutations.
They identified 2 separate, rare mutations in SLC30A8 that halted the function of the gene, appearing to reduce the risk of diabetes development and lower blood sugar in non-diabetics.
Eventually, 10 more separate, rare mutations were discovered having similar effects, leading researchers to conclude that inheriting 1 form of defective SLC30A8 led to a 65% reduced risk of diabetes development.
These mutations disrupt function of the ZnT8 protein found within SLC30A8, which transports zinc into insulin-producing beta cells. How the loss of function protects against diabetes development is still unknown.
“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,” researchers concluded.
–Michael Potts
References:
1. Bridger H. Study pinpoints protective mutations for type 2 diabetes [press release]. March 2, 2014. http://www.broadinstitute.org/news/5570
2. Flannick J Thorleifsson G, Beer N, Jacobs S, et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. doi:10.1038/ng.2915