Hutchinson-Gilford Progeria Syndrome: A Literature Review

被引：16

作者：

Lamis, Aselah ^{[1
]}

Siddiqui, Shiza W. ^{[1
]}

Ashok, Tejaswini ^{[2
]}

Patni, Nassar ^{[3
]}

Fatima, Mahejabeen ^{[3
]}

Aneef, Asiff Nathi ^{[4
]}

机构：

[1] Dubai Med Coll, Res, Dubai, U Arab Emirates

[2] Jagadguru Sri Shivarathreeshwara JSS Med Coll, Internal Med, Mysore, India

[3] Deccan Coll Med Sci, Internal Med, Hyderabad, India

[4] All India Inst Med Sci, Trauma & Emergency, Patna, India

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2022年 / 14卷 / 08期

关键词：

clinical trial; lonafarnib; bone mineralization; generalized osteopenia; atherosclerosis; lmna mutation; MUTANT LAMIN-A; NUCLEAR LAMINA; FARNESYLTRANSFERASE INHIBITOR; CLINICAL-TRIAL; MOUSE MODEL; PRELAMIN-A; FARNESYLATION; ACCUMULATION; FIBROBLASTS; PHENOTYPE;

D O I：

10.7759/cureus.28629

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 in vitro and in vivo 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.

引用

页数：10

共 73 条

[1] TELOMERE LENGTH PREDICTS REPLICATIVE CAPACITY OF HUMAN FIBROBLASTS [J].