Washington, USA:Dr. Abhimanyu Garg and Dr. Prashant Mishra have achieved recognition for uncovering a rare genetic disorder that triggers premature ageing, along with the gene variant linked to the condition.

Dr. Garg serves as a Professor of Internal Medicine, while Dr. Mishra holds the position of Associate Professor at the Children’s Medical Center Research Institute at UT Southwestern (CRI) and in the Department of Pediatrics.

In tribute to their work, the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University School of Medicine has named the condition "Garg-Mishra Progeroid Syndrome" (GMPGS). The syndrome is characterized by severe dwarfism, underdeveloped jawbones (mandibular hypoplasia), small eyeballs (microphthalmia), farsightedness (hyperopia), partial absence of body fat in the limbs (lipodystrophy), and a reduced lifespan.

The groundbreaking discovery began in 2022, following a case involving a Malaysian patient who exhibited highly atypical physical traits. At 21 years old, the patient was only 3.8 feet tall, weighed 46 pounds, and had a head circumference of 21 inches. Additionally, the patient presented with lipodystrophy and severe vision impairment. Genetic testing revealed a mutation in the TOMM7 gene, which codes for a component of the mitochondrial outer membrane’s import system, referred to as translocase of outer mitochondrial membrane 7.

Dr. Garg, affiliated with the Division of Endocrinology and the Center for Human Nutrition, and Dr. Mishra, part of the CRI Genetic and Metabolic Disease Program, identified this unique form of progeria, tracing its origin to the newly discovered TOMM7 mutation. Their findings have been detailed in the Journal of Clinical Investigation.