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A genetic cause for metabolic syndrome

Medicine@Yale, 2014 - July August

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Not only are coronary artery disease and diabetes leading causes of death worldwide, but metabolic syndrome, a cluster of risk factors for these diseases, is on the rise. Thanks to new Yale research, scientists may now have a better handle on the problem.

A team led by Arya Mani, M.D., associate professor of medicine and genetics, looked at families with abdominal obesity, coronary artery disease, hypertension, and diabetes. Using techniques including linkage analysis and whole-exome sequencing, the team found a mutation in the Dyrk1B gene in family members with the syndrome. The gene codes for an enzyme that regulates muscle-to-fat balance and stabilizes glucose levels. Individuals with the mutation displayed increased Dyrk1B activity and a lower muscle-to-fat ratio.

The study, published May 15 in the New England Journal of Medicine, is the first to find a single mutation behind the myriad of risk factors that comprise metabolic syndrome. “The mutated gene is a great target for potential therapeutics,” Mani says.