Familial Partial Lipodystrophy Associated with a PPARg Gene Mutation

Garg et al. recently reported on a missense heterozygous mutation, Arg397Cys, in peroxisome-proliferator-activated receptor-gamma (PPARy) gene in a 64-year-old woman with diabetes, hypertriglyceridaemia, hypertension, hirsutism, and marked subcutaneous fat loss, more prominent in her forearms and calves than in her upper arms and thighs [35].

Other heterozygous mutations in the PPARy gene were subsequently recognised in subjects with familial partial LD [36, 37]. PPARy is highly expressed in adipose tissue and plays a role in adi-pogenesis and adipocyte differentiation. However, the localised atrophy of adipose tissue has yet to be explained.

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