Abhimanyu Garg, M.D.
Program Director, Nutrition & Metabolic Diseases Fellowship Program
Professor of Internal Medicine
Chief, Division of Nutrition & Metabolic Diseases
Distinguished Chair in Human Nutrition Research

Dr. Garg’s group has been interested in studying monogenic syndromes causing diabetes mellitus especially genetic lipodystrophies. His group identified deficiency of AGPAT2 enzyme, which is critical for triglyceride and phospholipid biosynthesis, as the cause of congenital generalized lipodystrophy, type 1. His group also linked peroxisome proliferator-activated receptor-γ (PPARG) gene, the key adipocyte differentiation transcription factor, to familial partial lipodystrophy. His team has also identified the second locus for mandibuloacral dysplasia, i.e., zinc metalloproteinase (ZMPSTE24), that is responsible for post translational processing of prelamin A to its mature form lamin A. Recently, Garg and his colleagues have discovered mutations in proteasome subunit, beta-type 8 (PSMB8), adrenergic receptor alpha 2 A (ADRA2A), caveolin 1 (CAV1), hormone sensitive lipase (LIPE) linked to various syndromes of genetic lipodystrophies. He demonstrated that patients with generalized lipodystrophy have profound leptin deficiency and proposed that leptin deficiency might contribute to the metabolic complications in the disorder. This led him to initiate a collaborative trial with the NIDDK that demonstrated dramatic improvement in hyperglycemia, dyslipidemia, and fatty liver with leptin therapy. Metreleptin is now approved by the FDA for patients with generalized lipodystrophy.