Progeria Syndrome Unveiled: A Scientific Odyssey into Premature Aging Mechanisms and Therapeutic Frontiers

Year : 2024 | Volume :14 | Issue : 02 | Page : 52-68
By

Aanchal Verma,

Maitry Goel,

Vibha Gupta,

  1. Research Scholar Department of Biotechnology, Jaypee Institute of Information Technology, Uttar Pradesh, India
  2. U.G Student Department of Biotechnology, Jaypee Institute of Information Technology, Uttar Pradesh, India
  3. Associate Professor Department of Biotechnology, Jaypee Institute of Information Technology, Uttar Pradesh, India

Abstract

Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic disorder in childhood, exhibiting features akin to premature aging. Despite normal appearances in infancy, affected children face accelerated aging with distinct facial characteristics, including micrognathia, dental malformations, lower body weight, early hair loss, decreased joint mobility, lipodystrophy, etc. The cause of HGPS is a point mutation that occurs at the exon 11 of the LMNA gene which normally produces Lamin A protein. This mutation leads to the formation of a mutated Lamin A protein known as progerin. Unlike normal Lamin A, progerin undergoes incomplete processing and remains permanently farnesylated and carboxymethylated. The persistent farnesylation of progerin disrupts the normal nuclear architecture and function. This abnormality contributes to various cellular defects observed in individuals with HGPS. Different therapeutic strategies are used to target progerin for the treatment of HGPS such as methylation and farnesylation inhibitors, gene therapy, development of biologicals, and a new age CRSIP-CAS9 but none of them can cure it. Despite the considerable work remaining, the progress in understanding progeria holds promise for the development of innovative treatment approaches. This study delves into the mechanism of progerin formation, changes in the body due to progerin, its complications, current therapeutic strategies, and recent advancements

Keywords: Hutchinson-Gilford Progeria Syndrome (HGPS), Micrognathia, farnesylation, LMNA gene mutation, progerin, Methylation inhibitors and Gene therapy

[This article belongs to Research & Reviews: A Journal of Health Professions(rrjohp)]

How to cite this article: Aanchal Verma, Maitry Goel, Vibha Gupta. Progeria Syndrome Unveiled: A Scientific Odyssey into Premature Aging Mechanisms and Therapeutic Frontiers. Research & Reviews: A Journal of Health Professions. 2024; 14(02):52-68.
How to cite this URL: Aanchal Verma, Maitry Goel, Vibha Gupta. Progeria Syndrome Unveiled: A Scientific Odyssey into Premature Aging Mechanisms and Therapeutic Frontiers. Research & Reviews: A Journal of Health Professions. 2024; 14(02):52-68. Available from: https://journals.stmjournals.com/rrjohp/article=2024/view=167079

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Regular Issue Subscription Review Article
Volume 14
Issue 02
Received June 13, 2024
Accepted July 27, 2024
Published August 14, 2024
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