AN OVERVIEW OF PROGERIA: RARE DISEASE OF INDIA

Rare diseases (RDs) are conditions that affect a small percentage of the population and are often chronic and life-threatening. With more than 350 million people worldwide suffering from over 8,000 RDs, progeria stands out as a rare genetic disorder causing premature aging. This disorder includes syndromes like Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford syndrome (HGPS), and others, with HGPS being the most studied. HGPS is linked to mutations in the LMNA gene, which codes for lamin A and lamin C proteins. HGPS is caused by mutations in the LMNA gene, resulting in the production of an abnormal protein called progerin, which destabilizes cells and accelerates aging associated with detrimental phenotypic features. Progerin accumulation leads to genomic instability, dysregulated gene expression, delibated nuclear morphology and deficits in DNA repair. Awareness and education about rare diseases like progeria are crucial. Collaborative efforts involving patients, advocates, healthcare professionals, researchers, the pharmaceutical industry, and the government are essential for advancing research and treatment. Additionally, the potential role of nutraceuticals in future therapies should not be overlooked. Based on the articles analyzed, etiology, prevalence in India, treatment and supportive therapies and limitations of the reported treatment regimens have been examined. Possible targets identification, strategies for clinical trials are avenues for future research prospects.