The SOD1 enzyme, encoded by the SOD1 gene helps to reduce damage from highly reactive and toxic chemicals called free radicals. Scientists assumed that losing this ability via a mutation caused ALS in these patients, but Packard Center scientists and others have shown that mutant SOD1 brings about motor neuron death by other means.
Patients and ALS model animals can have good SOD1 enzyme function and still suffer progressive motor neuron loss. Packard scientists are actively exploring how mutant SOD1 damages cells, trying to show the important missing links between the damaged gene and all of the other pathological processes linked to ALS.
Because we know for certain that mutations in the SOD1 gene are toxic to motor neurons and are responsible for a subset of ALS cases, there’s likely great value in understanding how mutated SOD1 causes motor neuron death. Investigators refer to the resulting lines of research as work on SOD1-mediated neural toxicity.