Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery

被引：10

作者：

Lo Cicero, Alessandra ^{[1
,2
,3
]}

Nissan, Xavier ^{[1
,2
,3
]}

机构：

[1] I STEM, Inst Stem Cell Therapy & Explorat Monogen Dis, AFM, INSERM U861, F-91030 Evry, France

[2] I STEM, Inst Stem Cell Therapy & Explorat Monogen Dis, AFM, UEVE, F-91030 Evry, France

[3] I STEM, Inst Stem Cell Therapy & Explorat Monogen Dis, AFM, CECS, F-91030 Evry, France

来源：

AGEING RESEARCH REVIEWS | 2015年 / 24卷

关键词：

Ageing; Pluripotent stem cells; Progeria; SPINAL MUSCULAR-ATROPHY; FAMILIAL ALZHEIMERS-DISEASE; MOUSE MODEL; FARNESYLTRANSFERASE INHIBITOR; TELOMERE DYSFUNCTION; HUMAN FIBROBLASTS; NUCLEAR-ENVELOPE; LAMIN; MUTANT; IDENTIFICATION;

D O I：

10.1016/j.arr.2015.10.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (p.G608G) of the LMNA, leading to the production of a mutated form of lamin A precursor called progerin. In HGPS, progerin accumulates in cells causing progressive molecular defects, including nuclear shape abnormalities, chromatin disorganization, damage to DNA and delays in cell proliferation. Here we report how, over the past five years, pluripotent stem cells have provided new insights into the study of HGPS and opened new original therapeutic perspectives to treat the disease. (C) 2015 Elsevier B.V. All rights reserved.

引用

页码：343 / 348

页数：6

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