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哈钦森-吉尔福德早衰综合征:文献综述

Hutchinson-Gilford Progeria Syndrome: A Literature Review.

作者信息

Lamis Aselah, Siddiqui Shiza W, Ashok Tejaswini, Patni Nassar, Fatima Mahejabeen, Aneef Asiff Nathi

机构信息

Research, Dubai Medical College, Dubai, ARE.

Internal Medicine, Jagadguru Sri Shivarathreeshwara (J.S.S) Medical College, Mysore, IND.

出版信息

Cureus. 2022 Aug 31;14(8):e28629. doi: 10.7759/cureus.28629. eCollection 2022 Aug.

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.

摘要

哈钦森-吉尔福德早衰综合征(HGPS)是一种早衰病症,涉及基因突变,导致出现使人衰弱的表型特征。本文讨论了目前关于导致HGPS病理生理学的分子途径的知识现状,以及正在测试的对抗早老素毒性的技术。早老素积累会导致核形态异常、基因表达失调、DNA修复缺陷、端粒缩短和基因组不稳定,所有这些都会损害细胞增殖能力。此外,HGPS细胞和临床前动物模型揭示了有关该疾病分子和细胞途径以及正常衰老所涉及的推定机制的新信息。本文探讨了对早老素表达导致HGPS的分子途径的理解,以及针对HGPS患者的先进治疗方案如何帮助我们理解和治疗这种病症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f17a/9524302/d8133d377c8a/cureus-0014-00000028629-i01.jpg

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