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Discovery of gene linked to maturity-onset diabetes of the young

November 01, 2015

???The finding that the mutations affect beta cell function is especially interesting and allows for potential approaches towards developing therapeutics,??? said Kulkarni, co-senior author on the paper.By studying six large MODY families, the researchers traced five mutations to BLK. Normally, BLK triggers insulin production. One of the mutations was found to disrupt BLK??s ability to trigger insulin production. The other four were found to potentially affect BLK expression.As a result, the authors concluded that BLK plays a previously unsuspected role in the control of insulin synthesis and glucose metabolism.???We want to study this BLK pathway more to see whether it can be a target for a new drug or other ways to improve beta cell function, especially in people with more common forms of diabetes,??? Doria said. The paper suggests that the gene should be used in genetic tests for autosomal dominant diabetes, particularly in cases where the patients are overweight and the beta cells appear to be functional.The findings suggest that BLK is a previously unrecognized modulator of the function of beta cells, which make insulin. Diabetes occurs when beta cells in the pancreas fail to secrete insulin appropriately and degenerate. The paper concludes that the mutations identified in the families studied decrease BLK activity and/or expression, which in turn reduces insulin content and makes beta cells less responsive to glucose, resulting in a reduction in insulin secretion leading to diabetes.The study was supported by grants from the National Institutes of Health.Others participating in the research included M. Borowiec, of the Joslin Diabetes Center, the Department of Medicine at Harvard Medical School and the Medical University of Lodz in Poland; C.W. Liew, W. Boonyasrisawat, I. El Khattabi, S.H. Kim, L. Marselli, A.S. Krolewski, Susan Bonner-Weir, A. Sharma and R.N. Kulkarni, all of the Joslin Diabetes Center and the Department of Medicine at Harvard Medical School; R. Thompson and J. Hu of the Joslin Diabetes Center; W.M. Mlynarski of the Medical University of Lodz in Poland; and S.S. Rich, M. Sale and J.C. Mychaleckyj, all of the Center for Public Health Genomics, University of Virginia, Charlottesville.www.joslin