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A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2
Ist Teil von
Science (American Association for the Advancement of Science), 2004-05, Vol.304 (5675), p.1325-1328
Ort / Verlag
Washington, DC: American Association for the Advancement of Science
Erscheinungsjahr
2004
Quelle
American Association for the Advancement of Science
Beschreibungen/Notizen
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/PKBβ 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.