Researchers shed light on genetic defects that cause diabetes

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Findings may lead to improved treatments for the disease

New findings by researchers at Joslin Diabetes Center visualize the protein that is mutated in most individuals having a form of diabetes called Maturity Onset Diabetes of the Young (MODY). “These findings, reported in the November 2002 issue of the journal Molecular Cell, provide a clear picture of why mutations cause diabetes and potential avenues for improved treatments for the disease,” said research team leader Steven E. Shoelson, head of the Cellular and Molecular Physiology section at Joslin and the Helen and Morton Adler Chair in Structural Biology. Among the factors that distinguish MODY from typical type 2 diabetes are its inheritance pattern; it is passed on directly from one generation to the next, and clinical onset that usually occurs before age 25. “Of the six MODY genes identified over the past few years, one of the genes, MODY3, is by far the most common. In fact the MODY3 mutations in a gene called Hnf-1a are the most common of all genetic (monogenic) causes of diabetes,” Shoelson said.