6533b870fe1ef96bd12cfd9e

RESEARCH PRODUCT

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

Xavier NissanAlessandra Lo Cicero

subject

congenital hereditary and neonatal diseases and abnormalitiesAgingDiseaseBiologymedicine.disease_causeModels BiologicalBiochemistryLMNAProgeriaPluripotent stem cellsDrug DiscoverymedicineHumansInduced pluripotent stem cellMolecular BiologyGeneticsProgeriaMutationintegumentary systemDrug discoverynutritional and metabolic diseasesLamin Type Amedicine.diseaseProgerinChromatinAgeingNeurologyMutationCancer researchBiotechnology

description

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.

yearjournalcountryeditionlanguage
2015-10-22Ageing Research Reviews
https://doi.org/10.1016/j.arr.2015.10.002