A family with severe insulin resistance and diabetes due to a mutation in AKT2.
basic_science · Level V
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- Record sourced from PubMed, PMID 15166380.
- Also identified by PMC identifier 2258004.
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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.
Medical subject headings
- Diabetes Mellitus
- Insulin Resistance
- Mutation, Missense
- Protein Serine-Threonine Kinases
- Proto-Oncogene Proteins
- Transcription Factors