| Title: |
A Family with Severe Insulin Resistance and Diabetes Dueto a Mutation in AKT2. |
| Authors: |
George, Stella1, Rochford, Justin J.1, Wolfrum, Christian2, Cray, Sarah L1, Schinner, Sven1, Wilson, Jenny C.1, Soos, Maria A.1, Murgatroyd, Peter R.1, Williams, Rachel M.3, Acerini, Carlo L.3, Dunger, David B.3, Barford, David4, Umpleby, A. Margot5, Wareham, Nicholas J.6, Davies, Huw Alban7, Schafer, Alan J.8, Stoffel, Markus2, O'Rahilly, Stephen1 sorahill@hgmp.mrc.ac.uk, Barroso, Inès8,9 |
| Source: |
Science. 5/28/2004, Vol. 304 Issue 5675, p1325-1328. 4p. 1 Diagram, 2 Graphs. |
| Subject Terms: |
*INSULIN, *PANCREATIC secretions, *HYPOGLYCEMIC agents, *DIABETES, *CARBOHYDRATE intolerance, *PROTEIN kinases |
| 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/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. [ABSTRACT FROM AUTHOR] |
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| Database: |
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