Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1

Hum Mol Genet. 2013 Oct 1;22(19):3947-59. doi: 10.1093/hmg/ddt249. Epub 2013 Jun 4.

Abstract

Mutant superoxide dismutase 1 (SOD1) selectively associates with spinal cord mitochondria in rodent models of SOD1-mediated amyotrophic lateral sclerosis. A portion of mutant SOD1 exists in a non-native/misfolded conformation that is selectively recognized by conformational antibodies. Misfolded SOD1 is common to all mutant SOD1 models, is uniquely found in areas affected by the disease and is considered to mediate toxicity. We report that misfolded SOD1 recognized by the antibody B8H10 is present in greater abundance in mitochondrial fractions of SOD1(G93A) rat spinal cords compared with oxidized SOD1, as recognized by the C4F6 antibody. Using a novel flow cytometric assay, we detect an age-dependent deposition of B8H10-reactive SOD1 on spinal cord mitochondria from both SOD1(G93A) rats and SOD1(G37R) mice. Mitochondrial damage, including increased mitochondrial volume, excess superoxide production and increased exposure of the toxic BH3 domain of Bcl-2, tracks positively with the presence of misfolded SOD1. Lastly, B8H10 reactive misfolded SOD1 is present in the lysates and mitochondrial fractions of lymphoblasts derived from ALS patients carrying SOD1 mutations, but not in controls. Together, these results highlight misfolded SOD1 as common to two ALS rodent animal models and familial ALS patient lymphoblasts with four different SOD1 mutations. Studies in the animal models point to a role for misfolded SOD1 in mitochondrial dysfunction in ALS pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / physiopathology
  • Animals
  • Antibodies
  • Cell Line
  • Disease Models, Animal
  • Flow Cytometry
  • Gliosis
  • Homeostasis
  • Humans
  • Mice
  • Mitochondria / metabolism*
  • Mitochondria / ultrastructure*
  • Neurons / metabolism*
  • Protein Folding
  • Rats
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Spinal Cord / ultrastructure
  • Superoxide Dismutase / analysis*
  • Superoxide Dismutase / chemistry*
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1

Substances

  • Antibodies
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Sod1 protein, rat
  • Superoxide Dismutase
  • Superoxide Dismutase-1

Supplementary concepts

  • Amyotrophic lateral sclerosis 1