what percent of als is caused by sod1 mutations
Mutations in the gene for the enzymes superoxide dismutase 1 (SOD1) or copper zinc superoxide dismutase have been found in approximately 15-20 percent of the familial cases of ALS. Some quick math shows, then, that approximately 1 to 2 percent of all cases of ALS involve this particular gene mutation.
The SOD1 mouse develops an ALS-like disease that researchers hope overlaps enough with human ALS that mouse responses to treatment might predict human responses. SOD1 gene mutations, however, cause a familial (inherited) form of human ALS thatâs present in only 1 percent to 3 percent of ALS cases. For some 90 percent of patients, the disease isnât familial. Its onset is unpredictable (sporadic) and the cause is unknown.