Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death

Mol Genet Metab. 2005 May;85(1):38-45. doi: 10.1016/j.ymgme.2004.12.015. Epub 2005 Feb 16.

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the telomeric copy of the survival motor neuron (SMN1) gene. Although the SMN protein has been implicated in the biogenesis of ribonucleoprotein complexes and RNA processing, it is not clear how these functions contribute to the pathogenesis of SMA. To gain a further understanding of SMN function, we have investigated its role in cell survival in skin fibroblasts derived from SMA patients and age-matched controls. SMA fibroblasts exposed to camptothecin, a specific inhibitor of DNA topoisomerase I, consistently showed cell death at a lower concentration than normal controls. Treatment with other cell death-inducing agents did not cause differences in survival of SMA fibroblasts as compared with control fibroblasts. Camptothecin treatment resulted in activation of caspase-3 with generation of the caspase-3 cleavage product, poly ADP-ribose polymerase (PARP). Depletion of SMN protein by RNA interference in control fibroblasts increased caspase-3 activity, whereas transfection of SMA fibroblasts with wild-type SMN decreased caspase-3 activity. Our data demonstrate that SMA fibroblasts are more prone to some, but not all, death-stimuli. Vulnerability to death-stimuli is associated with decreased levels of SMN protein and is mediated by activation of caspase-3.

Publication types

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

MeSH terms

  • Atrophy
  • Base Sequence
  • Biopsy
  • Camptothecin / toxicity*
  • Cell Death / drug effects
  • Cell Survival
  • Fibroblasts / drug effects
  • Fibroblasts / pathology*
  • Humans
  • Molecular Sequence Data
  • Motor Neurons / pathology
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / pathology*
  • Nucleic Acid Conformation
  • RNA / chemistry
  • RNA / genetics
  • Sequence Deletion
  • Skin / pathology
  • Telomere / genetics
  • Vitamin K 3 / toxicity

Substances

  • RNA
  • Vitamin K 3
  • Camptothecin