Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis

Neurosci Lett. 1998 Nov 20;257(1):29-32. doi: 10.1016/s0304-3940(98)00800-3.

Abstract

To investigate the molecular mechanisms of the 'gain of toxic function' of mutant Cu/Zn superoxide dismutase (SOD) associated with familial amyotrophic lateral sclerosis (FALS), mutant (Ala 4 --> Thr, Gly 85 --> Arg, Gly 93 --> Ala, and two base-pair deletion in the 126th codon), as well as wild-type (wt), Cu/Zn SODs were expressed in COS7 cells. The formation of granular cytoplasmic aggregates accompanied by collapse of the cytoplasm was observed in cells expressing mutant (mt) Cu/Zn SODs, but not in cells expressing wt Cu/Zn SOD. The aggregates contained ribosome-like particles and endoplasmic reticulum. These results suggest the possibility that mt Cu/Zn SODs promote the formation of aggregates which are toxic to cells.

MeSH terms

  • Amino Acid Substitution
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / pathology*
  • Animals
  • Blotting, Western
  • COS Cells
  • Cytoplasm / enzymology
  • Cytoplasm / pathology
  • Cytoplasm / ultrastructure
  • Cytoplasmic Granules / enzymology*
  • Cytoplasmic Granules / pathology
  • Cytoplasmic Granules / ultrastructure
  • Gene Expression
  • Mitochondria / enzymology
  • Mutation*
  • Superoxide Dismutase / biosynthesis*
  • Superoxide Dismutase / genetics*
  • Time Factors
  • Transfection

Substances

  • Superoxide Dismutase