Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis

J Neurochem. 1999 Feb;72(2):693-9. doi: 10.1046/j.1471-4159.1999.0720693.x.

Abstract

Mutations in the Cu/Zn-superoxide dismutase (SOD-1) gene underlie some familial cases of amyotrophic lateral sclerosis, a neurodegenerative disorder characterized by loss of cortical, brainstem, and spinal motor neurons. We present evidence that SOD-1 mutants alter the activity of molecular chaperones that aid in proper protein folding and targeting of abnormal proteins for degradation. In a cultured cell line (NIH 3T3), resistance to mutant SOD-1 toxicity correlated with increased overall chaperoning activity (measured by the ability of cytosolic extracts to prevent heat denaturation of catalase) as well as with up-regulation of individual chaperones/stress proteins. In transgenic mice expressing human SOD-1 with the G93A mutation, chaperoning activity was decreased in lumbar spinal cord but increased or unchanged in clinically unaffected tissues. Increasing the level of the stress-inducible chaperone 70-kDa heat shock protein by gene transfer reduced formation of mutant SOD-containing proteinaceous aggregates in cultured primary motor neurons expressing G93A SOD-1 and prolonged their survival. We propose that insufficiency of molecular chaperones may be directly involved in loss of motor neurons in this disease.

Publication types

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

MeSH terms

  • 3T3 Cells
  • Amyotrophic Lateral Sclerosis / metabolism*
  • Animals
  • Cell Survival / physiology
  • Chaperonins / metabolism*
  • Gene Expression Regulation, Enzymologic
  • Gene Transfer Techniques
  • HSP70 Heat-Shock Proteins / genetics
  • HSP70 Heat-Shock Proteins / metabolism
  • Heat-Shock Response / physiology
  • Humans
  • Mice
  • Mice, Transgenic
  • Motor Neurons / cytology
  • Motor Neurons / enzymology
  • Mutation / physiology
  • Neuroprotective Agents / metabolism
  • Spinal Cord / cytology
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase / metabolism
  • Transfection
  • Up-Regulation / physiology

Substances

  • HSP70 Heat-Shock Proteins
  • Neuroprotective Agents
  • Superoxide Dismutase
  • Chaperonins