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

Abstract

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.

• Authors: Alessandra Lo Cicero, Xavier Nissan
• Journal: Ageing research reviews (Ageing Res Rev) Vol. 24 Issue Pt B Pg. 343-8 (Nov 2015) ISSN: 1872-9649 [Electronic] England
• PMID: 26474742 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2015 Elsevier B.V. All rights reserved.

Chemical References

• Lamin Type A
• prelamin A

Topics

• Aging (physiology)
• Drug Discovery
• Humans
• Lamin Type A (genetics)
• Models, Biological
• Mutation
• Pluripotent Stem Cells (physiology)
• Progeria (genetics, metabolism)