Redox modifier genes in amyotrophic lateral sclerosis in mice

J Clin Invest. 2007 Oct;117(10):2913-9. doi: 10.1172/JCI31265.

Abstract

Amyotrophic lateral sclerosis (ALS), one of the most common adult-onset neurodegenerative diseases, has no known cure. Enhanced redox stress and inflammation have been associated with the pathoprogression of ALS through a poorly defined mechanism. Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression. Deletion of either Nox gene significantly slowed disease progression and improved survival. However, 50% survival rates were enhanced significantly more by Nox2 deletion than by Nox1 deletion. Interestingly, female ALS mice containing only 1 active X-linked Nox1 or Nox2 gene also had significantly delayed disease onset, but showed normal disease progression rates. Nox activity in spinal cords from Nox2 heterozygous female ALS mice was approximately 50% that of WT female ALS mice, suggesting that random X-inactivation was not influenced by Nox2 gene deletion. Hence, chimerism with respect to Nox-expressing cells in the spinal cord significantly delayed onset of motor neuron disease in ALS. These studies define what we believe to be new modifier gene targets for treatment of ALS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / enzymology*
  • Amyotrophic Lateral Sclerosis / genetics
  • Animals
  • Disease Progression
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / antagonists & inhibitors*
  • Membrane Glycoproteins / genetics
  • Mice
  • Mice, Knockout
  • NADH, NADPH Oxidoreductases / analysis
  • NADH, NADPH Oxidoreductases / antagonists & inhibitors*
  • NADH, NADPH Oxidoreductases / genetics
  • NADPH Oxidase 1
  • NADPH Oxidase 2
  • NADPH Oxidases / analysis
  • NADPH Oxidases / antagonists & inhibitors*
  • NADPH Oxidases / genetics
  • Oxidation-Reduction
  • Oxidative Stress / genetics
  • Spinal Cord / enzymology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1

Substances

  • Membrane Glycoproteins
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • NADH, NADPH Oxidoreductases
  • Cybb protein, mouse
  • NADPH Oxidase 1
  • NADPH Oxidase 2
  • NADPH Oxidases
  • NOX1 protein, mouse