Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

ABSTRACT:

Objective

Genetic defects in human pericentrin (PCNT), encoding the centrosomal protein pericentrin, cause a form of osteodysplastic primordial dwarfism that is sometimes reported to be associated with diabetes. We thus set out to determine the prevalence of diabetes and insulin resistance among patients with PCNT defects and examined the effects of pericentrin depletion on insulin action using 3T3-L1 adipocytes as a model system.

Research design and methods

A cross-sectional metabolic assessment of 21 patients with PCNT mutations was undertaken. Pericentrin expression in human tissues was profiled using quantitative real-time PCR. The effect of pericentrin knockdown on insulin action and adipogenesis in 3T3-L1 adipocytes was determined using Oil red O staining, gene-express

SUBMITTER: Huang-Doran I 

PROVIDER: S-EPMC3046854 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature