Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome

摘要: Insulin resistance is common and plays a central role in the pathogenesis of type 2 diabetes mellitus (T2DM). Precedents biomedical research indicate that evaluation monogenic syndromes can help to understand complex phenotype. Monogenic forms insulin resistance, such as familial partial lipodystrophy, which results from mutations either LMNA (encoding lamin A/C) or PPARG peroxisome proliferator-activated receptor γ), congenital generalized AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase) BSCL2 seipin), display features seen metabolic syndrome. In addition, disorders associated with mutations, progeria inherited obesity. Although rare could simply be secondary fat redistribution and/or obesity, products causative genes might also produce directly, illuminate new mechanisms for T2DM