SOD1 mutation

SOD1 mutation refers to a change in the gene that produces the enzyme superoxide dismutase 1 (SOD1), which helps protect cells from damage caused by harmful molecules called free radicals. When mutated, the SOD1 enzyme can become misfolded or dysfunctional, leading to the accumulation of toxic proteins in nerve cells. This buildup can cause nerve cell death, particularly in motor neurons, which control muscle movement. Such mutations are associated with familial forms of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that affects muscle strength and coordination.