Involvement of survival motor neuron (SMN) protein in cell death

Hum Mol Genet. 2002 Oct 15;11(22):2751-64. doi: 10.1093/hmg/11.22.2751.

Abstract

Infantile spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron (SMN)1 gene. We investigated the role of human (h) SMN protein on cell death in PC12 and Rat-1 cells. hSMN prolonged cell survival in PC12 cells deprived of trophic support and in Rat-1 cells induced to die by activation of the proto-oncogene c-Myc, to similar magnitude as Bcl-2 or IAP-2. While hSMN was ineffective in inhibiting apoptosis induced by ultraviolet light (UV) or etoposide treatment in proliferating PC12 or Rat-1 cells, a protective effect was observed in terminally NGF/dBcAMP-differentiated PC12 cells. hSMN inhibited the onset of apoptosis in NGF/dBcAMP-deprived or UV-treated co-differentiated PC12 cells by preventing cytochrome c release and caspase-3 activation, indicating that its effects are through suppression of the mitochondrial apoptotic pathway. Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function. Moreover, these mutants also exhibited pro-apoptotic effects in Rat-1 cells. The localization pattern of full-length hSMN in PC12 and Rat-1 cells was similar to that of endogenous SMN: granular labelling in the cytoplasm and discrete fluorescence spots in the nucleus, some of which co-localized with p80 coilin, the characteristic marker of Cajal bodies. However, cytoplasmic and nuclear aggregates were often seen with hSMNDelta7, whereas the hSMNDelta6/7 mutant showed homogenous nuclear labelling that excluded the nucleolus. Thus, our results show that the C-terminal region is critical in suppression of apoptosis by SMN.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / drug effects
  • Apoptosis / genetics
  • Apoptosis / physiology*
  • Apoptosis / radiation effects
  • Caspase 3
  • Caspases / metabolism
  • Cell Differentiation
  • Cell Line
  • Cyclic AMP Response Element-Binding Protein
  • Cytochrome c Group / metabolism
  • DNA Damage
  • Etoposide / pharmacology
  • Genes, myc
  • Humans
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology*
  • PC12 Cells
  • Proto-Oncogene Mas
  • RNA-Binding Proteins
  • Rats
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / pathology
  • Survival of Motor Neuron 1 Protein
  • Transfection
  • Ultraviolet Rays

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Cytochrome c Group
  • MAS1 protein, human
  • Nerve Tissue Proteins
  • Proto-Oncogene Mas
  • RNA-Binding Proteins
  • Recombinant Proteins
  • SMN Complex Proteins
  • Smn1 protein, rat
  • Survival of Motor Neuron 1 Protein
  • Etoposide
  • CASP3 protein, human
  • Casp3 protein, rat
  • Caspase 3
  • Caspases