Scientists discover new form of diabetes caused by gene mutation

A new type of monogenic diabetes, caused by a gene mutation and fueled by a lack of the insulin-stimulating hormone GIP, has been discovered by a team of researchers across Europe and Asia.

The doctors, who span in location from the U.K. to Finland to Japan, documented their recent findings in Nature Communications after identifying the previously unknown form of diabetes, which stems from a mutation in a gene known as RFX6. Patients who carry the RFX6 mutation are likely to develop diabetes—80 percent of subjects with the mutation were living with disease by the time they turned 50, Michael N. Weedon, MD, and colleagues wrote in their study. The disease can take root, though, before a patient turns 20.

Maturity-onset diabetes of the young (MODY) is a type of monogenic diabetes that develops as a result of beta-cell dysfunction and generally presents itself in affected patients before they’re 25 years old. Individuals with MODY also tend to be non-obese, non-insulin-dependent and have an autosomal dominant inheritance of diabetes.

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