title: 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.affiliation: INSERM U861, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France; UEVE, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France; CECS, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Lo Cicero
authors.affiliation: INSERM U861, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France; UEVE, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France; CECS, I-STEM, AFM, Institute for Stem cell Therapy and Exploration of Monogenic diseases, 5 rue Henri Desbruères, 91030 Evry Cedex, France. Electronic address: xnissan@istem.fr.
authors.forename: Xavier
authors.initials: X
authors.lastname: Nissan
mesh_terms: D000375:Aging / Q000502:physiology*; D055808:Drug Discovery; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008954:Models, Biological; D009154:Mutation; D039904:Pluripotent Stem Cells / Q000502:physiology*; D011371:Progeria / Q000235:genetics / Q000378:metabolism
chemical_list: D034904:Lamin Type A; C090764:prelamin A
keywords: Ageing; Pluripotent stem cells; Progeria