PPARG Mutations C190S and D424N cause Familial Partial Lipodystrophy and NAFLD

The nuclear hormone receptor peroxisome proliferator-activated receptor gamma (PPARγ) plays a pivotal role in the regulation of lipid and glucose metabolism. Mutations in the PPARG gene have been identified to cause familial partial lipodystrophy (FPLD) with severe insulin resistance, diabetes mellitus, dyslipidemia, early cardiovascular disease and fatty liver disease. We screened 5 subjects from 2 families with symptoms of FPLD including hepatic steatosis or steatohepatitis for mutations in PPARG and identified PPARG C190S mutation in family 1 and PPARG D424N mutation in family 2. The mutations were not presen…