Causes of ALS: SOD1 Mutations

Because we know for certain that mutations of 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 cells to die. Investigators refer to the resulting lines of research as work on SOD1 mediated neural toxicity. 

The product of the normal SOD1 gene – the SOD1 enzyme – exists to reduce toxic free radicals in cells. It was tempting to assume that losing this ability via a mutation brings about ALS. 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 does its damage, trying to show the important missing links between the damaged gene and all of the other nine pathological processes.

Learn more about the research projects funded and coordinated by the Packard Center for ALS Research at Johns Hopkins, and targeted at finding the causes of ALS and a cure. Subscribe to ALS Alert to stay informed about ALS research and clinical trials.