Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

Sci Transl Med. 2011 Jun 29;3(89):89ra58. doi: 10.1126/scitranslmed.3002346.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the nuclear scaffold and leads to nuclear blebbing in cultured cells. Progerin is also produced in normal cells, increasing in abundance as senescence approaches. Here, we report the effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Our findings suggest an additional mechanism for the beneficial effects of rapamycin on longevity and encourage the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibiotics, Antineoplastic / pharmacology*
  • Autophagy / drug effects
  • Cell Nucleus / drug effects
  • Cell Nucleus / ultrastructure
  • Cells, Cultured
  • Fibroblasts / cytology
  • Fibroblasts / drug effects*
  • Fibroblasts / metabolism*
  • HeLa Cells
  • Humans
  • Lamin Type A / genetics
  • Lamin Type A / metabolism
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Phenotype*
  • Progeria / metabolism*
  • Progeria / pathology
  • Progeria / physiopathology
  • Protein Precursors / genetics
  • Protein Precursors / metabolism
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sirolimus / pharmacology*

Substances

  • Antibiotics, Antineoplastic
  • Lamin Type A
  • Nuclear Proteins
  • Protein Precursors
  • Recombinant Fusion Proteins
  • prelamin A
  • Sirolimus