Hutchinson-Gilford Progeria Syndrome: A Literature Review

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2022 Oct 5

PMID 36196312

Authors

Aselah Lamis

Shiza W Siddiqui

Tejaswini Ashok

Nassar Patni

Mahejabeen Fatima

Asiff Nathi Aneef

Affiliations

Soon will be listed here.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging condition that involves genetic mutations, resulting in debilitating phenotypic features. The present state of knowledge on the molecular pathways that contribute to the pathophysiology of HGPS and the techniques being tested and to combat progerin toxicity have been discussed here. Nuclear morphological abnormalities, dysregulated gene expression, DNA repair deficiencies, telomere shortening, and genomic instability are all caused by progerin accumulation, all of which impair cellular proliferative capability. In addition, HGPS cells and preclinical animal models have revealed new information about the disease's molecular and cellular pathways and putative mechanisms involved in normal aging. This article has discussed the understanding of the molecular pathways by which progerin expression leads to HGPS and how the advanced therapy options for HGPS patients can help us understand and treat the condition.

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