Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
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Amyotroph. Lateral Scler. Other Motor Neuron Disord. · Jun 2002
Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress.
The exact molecular mechanisms by which mutations in Cu/Zn superoxide dismutase (SOD1) cause motor neuron injury remain incompletely understood, though a body of evidence suggests that the mutant protein exerts a cell-specific toxic gain of function. The role of nitric oxide (NO) in SOD1-related motor neuron injury has been particularly controversial. Theoretically, there are arguments to suggest that NO may exert an important role in motor neuron injury, but there is relatively little direct experimental support for this hypothesis. ⋯ NO is likely to contribute to motor neuron injury, but this does not fully account for all the cellular toxic effects of mutant SOD1.