Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis

Proc Natl Acad Sci U S A. 2000 Nov 7;97(23):12571-6. doi: 10.1073/pnas.220417997.

Abstract

Deposition of aggregated protein into neurofilament-rich cytoplasmic inclusion bodies is a common cytopathological feature of neurodegenerative disease. How-or indeed whether-protein aggregation and inclusion body formation cause neurotoxicity are presently unknown. Here, we show that the capacity of superoxide dismutase (SOD) to aggregate into biochemically distinct, high molecular weight, insoluble protein complexes (IPCs) is a gain of function associated with mutations linked to autosomal dominant familial amyotrophic lateral sclerosis. SOD IPCs are detectable in spinal cord extracts from transgenic mice expressing mutant SOD several months before inclusion bodies and motor neuron pathology are apparent. Sequestration of mutant SOD into cytoplasmic inclusion bodies resembling aggresomes requires retrograde transport on microtubules. These data indicate that aggregation and inclusion body formation are mechanistically and temporally distinct processes.

Publication types

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

MeSH terms

  • Animals
  • Cell Line
  • Enzyme Stability
  • Female
  • Genetic Diseases, Inborn
  • Glycogen Storage Disease Type IV / enzymology*
  • Glycogen Storage Disease Type IV / pathology
  • Humans
  • Inclusion Bodies / metabolism
  • Male
  • Mice
  • Mice, Transgenic
  • Microtubules / metabolism
  • Molecular Weight
  • Motor Neurons / enzymology
  • Motor Neurons / pathology
  • Mutagenesis
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism*
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • SOD1 G93A protein
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1