Abstract
The common syndrome of insulin resistance with hyperinsulinemia is frequently associated with a collection of metabolic abnormalities, including dyslipidemia, hypertension and diabetes. Lipodystrophy syndromes, which include both genetic and acquired forms, resemble the insulin resistance syndrome, particularly with respect to the presence of associated biochemical disturbances such as hyperlipidemia and diabetes. Since the discovery in 1999 that mutant LMNA causes Dunnigan-type partial lipodystrophy, human mutations in three other genes have been implicated in inherited lipodystrophy syndromes, namely PPARG in partial lipodystrophy, and AGPAT and BSCL2 in complete lipodystrophy. There is evidence for additional genetic heterogeneity for lipodystrophy syndromes. Delineation of the human molecular genetic basis of forms of inherited lipodystrophy may help to identify pathways and molecular targets for the common insulin resistance syndrome and for acquired drug-induced lipodystrophy syndromes.
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