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A family with severe insulin resistance and diabetes due to a mutation in AKT2
Authors:George Stella  Rochford Justin J  Wolfrum Christian  Gray Sarah L  Schinner Sven  Wilson Jenny C  Soos Maria A  Murgatroyd Peter R  Williams Rachel M  Acerini Carlo L  Dunger David B  Barford David  Umpleby A Margot  Wareham Nicholas J  Davies Huw Alban  Schafer Alan J  Stoffel Markus  O'Rahilly Stephen  Barroso Inês
Institution:Department of Clinical Biochemistry, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.
Abstract:Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we describe a mutation in the gene encoding the protein kinase AKT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resistance and diabetes mellitus. Expression of the mutant kinase in cultured cells disrupted insulin signaling to metabolic end points and inhibited the function of coexpressed, wild-type AKT. These findings demonstrate the central importance of AKT signaling to insulin sensitivity in humans.
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