AN OVERVIEW OF PROGERIA: RARE DISEASE OF INDIA
Author: Shambaditya Goswami, Soumya Pathak, Sadaf Salma, Md. Mannan Ansari, Md. Rehan Alam,
Md. Mirza Dilkaish, Abhay Sharma
Abstract:
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.
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