Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome

Protein Cell. 2018 Apr;9(4):333-350. doi: 10.1007/s13238-018-0517-8. Epub 2018 Feb 23.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin. WS is caused by mutations in WRN gene, encoding a loss-of-function RecQ DNA helicase. Here, by gene editing we created isogenic human embryonic stem cells (ESCs) with heterozygous (G608G/+) or homozygous (G608G/G608G) LMNA mutation and biallelic WRN knockout, for modeling HGPS and WS pathogenesis, respectively. While ESCs and endothelial cells (ECs) did not present any features of premature senescence, HGPS- and WS-mesenchymal stem cells (MSCs) showed aging-associated phenotypes with different kinetics. WS-MSCs had early-onset mild premature aging phenotypes while HGPS-MSCs exhibited late-onset acute premature aging characterisitcs. Taken together, our study compares and contrasts the distinct pathologies underpinning the two premature aging disorders, and provides reliable stem-cell based models to identify new therapeutic strategies for pathological and physiological aging.

Keywords: HGPS; WRN; Werner syndrome; aging; lamin; stem cell.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / genetics*
  • Aging / physiology
  • DNA Helicases / genetics
  • Human Embryonic Stem Cells / metabolism*
  • Human Embryonic Stem Cells / physiology
  • Humans
  • Kinetics
  • Lamin Type A / genetics
  • Mesenchymal Stem Cells / metabolism
  • Mesenchymal Stem Cells / physiology
  • Mutation
  • Progeria / genetics*
  • Progeria / physiopathology
  • Werner Syndrome / genetics*
  • Werner Syndrome / physiopathology

Substances

  • LMNA protein, human
  • Lamin Type A
  • DNA Helicases