A recently discovered genetic disorder characterized by accelerated aging has been designated as Garg-Mishra Progeroid Syndrome (GMPGS) in tribute to its discoverers, Dr. Abhimanyu Garg and Dr. Prashant Mishra. This uncommon condition is associated with a mutation in the TOMM7 gene, which plays a vital role in the mitochondrial outer membrane import complex. GMPGS manifests through several severe symptoms, including pronounced dwarfism, a reduced lifespan, mandibular hypoplasia (underdeveloped jaw), microphthalmia (reduced eye size), hyperopia (farsightedness), and partial lipodystrophy (fat loss in the limbs). The syndrome was first documented in a 2022 case involving a 21-year-old Malaysian individual who displayed extreme dwarfism, notable vision issues, and a weight of merely 46 pounds.
Dr. Garg, a Professor of Internal Medicine at UT Southwestern Medical Center, has made significant strides in the study of metabolic disorders and lipodystrophy, notably contributing to the development of FDA-approved leptin therapy and authoring over 170 scientific publications. Dr. Mishra, an Associate Professor at the Children’s Medical Center Research Institute, focuses on mitochondrial diseases and cellular dysfunctions, working on innovative therapeutic approaches. Their joint efforts culminated in the identification and naming of this distinctive form of progeria. The McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University formally recognized the syndrome to honor the essential contributions of Garg and Mishra. Their findings offer vital insights into genetic and metabolic disorders, establishing a foundation for future research and potential treatments.