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.

Delicious Diabetic Recipes

Delicious Diabetic Recipes

This brilliant guide will teach you how to cook all those delicious recipes for people who have diabetes.

Get My Free Ebook

Post a comment