RGD Reference Report - Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. - Rat Genome Database

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Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes.

Authors: Hearn, T  Spalluto, C  Phillips, VJ  Renforth, GL  Copin, N  Hanley, NA  Wilson, DI 
Citation: Hearn T, etal., Diabetes. 2005 May;54(5):1581-7.
RGD ID: 1576431
Pubmed: PMID:15855349   (View Abstract at PubMed)

Alstrom syndrome is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1. Central features of Alstrom syndrome include obesity, insulin resistance, and type 2 diabetes, and therefore investigating ALMS1 function stands to offer new insights into the pathogenesis of these common conditions. To begin this process, we have analyzed the subcellular localization and tissue distribution of ALMS1 by immunofluorescence. We show that ALMS1 is widely expressed and localizes to centrosomes and to the base of cilia. Fibroblasts with disrupted ALMS1 assemble primary cilia and microtubule cytoskeletons that appear normal, suggesting that the Alstrom syndrome phenotype results from impaired function rather than abnormal development. Coupled with recent data on the complex phenotype of Bardet-Biedl syndrome, our findings imply an unexpected central role for basal body and centrosome dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Unraveling the molecular mechanisms underlying the Alstrom syndrome phenotype will be important in the search for new therapeutic targets for these conditions.



Gene ALMS1 ALMS1 centrosome and basal body associated protein Homo sapiens
Gene Alms1 ALMS1, centrosome and basal body associated protein Rattus norvegicus