Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis

Proc Natl Acad Sci U S A. 2007 Jul 24;104(30):12524-9. doi: 10.1073/pnas.0705044104. Epub 2007 Jul 16.

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron degenerative disease whose etiology and pathogenesis remain poorly understood. Most cases of ALS ( approximately 90%) are sporadic (SALS), occurring in the absence of genetic associations. Approximately 20% of familial ALS (FALS) cases are due to known mutations in the copper, zinc superoxide dismutase (SOD1) gene. Molecular evidence for a common pathogenesis of SALS and FALS has remained elusive. Here we use covalent chemical modification to reveal an attribute of spinal cord SOD1 common to both SOD1-linked FALS and SALS, but not present in normal or disease-affected tissues from other neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's diseases and spinal muscular atrophy, a non-ALS motor neuron disease. Biotinylation reveals a 32-kDa, covalently cross-linked SOD1-containing protein species produced not only in FALS caused by SOD1 mutation, but also in SALS. These studies use chemical modification as a novel tool for the detection of a disease-associated biomarker. Our results identify a shared molecular event involving a known target gene and suggest a common step in the pathogenesis between SALS and FALS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / enzymology
  • Alzheimer Disease / pathology
  • Amyotrophic Lateral Sclerosis / congenital
  • Amyotrophic Lateral Sclerosis / enzymology*
  • Amyotrophic Lateral Sclerosis / pathology
  • Antigens / immunology
  • Autopsy
  • Biotin / chemistry
  • Dementia / enzymology
  • Dementia / pathology
  • Disease Susceptibility
  • Humans
  • Molecular Weight
  • Muscular Atrophy, Spinal / enzymology
  • Muscular Atrophy, Spinal / pathology
  • Parkinson Disease / enzymology
  • Parkinson Disease / pathology
  • Superoxide Dismutase / chemistry
  • Superoxide Dismutase / immunology
  • Superoxide Dismutase / metabolism*
  • Superoxide Dismutase-1

Substances

  • Antigens
  • SOD1 protein, human
  • Biotin
  • Superoxide Dismutase
  • Superoxide Dismutase-1