Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading

Nat Neurosci. 2002 Apr;5(4):301-7. doi: 10.1038/nn823.

Abstract

Copper-mediated oxidative damage is proposed to play a critical role in the pathogenesis of Cu/Zn superoxide dismutase (SOD1)-linked familial amyotrophic lateral sclerosis (FALS). We tested this hypothesis by ablating the gene encoding the copper chaperone for SOD1 (CCS) in a series of FALS-linked SOD1 mutant mice. Metabolic 64Cu labeling in SOD1-mutant mice lacking the CCS showed that the incorporation of copper into mutant SOD1 was significantly diminished in the absence of CCS. Motor neurons in CCS-/- mice showed increased rate of death after facial nerve axotomy, a response documented for SOD1-/- mice. Thus, CCS is necessary for the efficient incorporation of copper into SOD1 in motor neurons. Although the absence of CCS led to a significant reduction in the amount of copper-loaded mutant SOD1, however, it did not modify the onset and progression of motor neuron disease in SOD1-mutant mice. Hence, CCS-dependent copper loading of mutant SOD1 plays no role in the pathogenesis of motor neuron disease in these mouse models.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Animals
  • Axotomy
  • Copper / chemistry
  • Copper / metabolism*
  • Humans
  • Life Expectancy
  • Mice
  • Mice, Knockout
  • Molecular Chaperones / metabolism*
  • Motor Neuron Disease / enzymology*
  • Motor Neuron Disease / physiopathology
  • Motor Neurons / enzymology*
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Mutation
  • Spinal Cord / chemistry
  • Spinal Cord / cytology
  • Spinal Cord / pathology
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1
  • Survival Rate
  • Tissue Extracts / chemistry
  • Tissue Extracts / metabolism

Substances

  • CCS protein, human
  • Ccs protein, mouse
  • Molecular Chaperones
  • SOD1 protein, human
  • Tissue Extracts
  • Copper
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1