Human Insulin Signaling

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Science  28 May 2004:
Vol. 304, Issue 5675, pp. 1207
DOI: 10.1126/science.304.5675.1207a

The most common forms of Type 2 diabetes are thought to arise from the interaction of many different genes and life-style factors. As is true for other complex diseases, the genetic factors contributing to the pathogenesis of diabetes are more readily identified by studying rare, monogenic forms of the disease. George et al. (p. 1325) find that a family showing autosomal dominant inheritance of severe insulin resistance and diabetes carries a mutation in the serine-threonine kinase AKT2, which inactivates its function. Earlier studies of mice had identified AKT2 as a key player in the insulin signaling pathway, and the new genetic data underscore the protein's important role in human diabetes.

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