Mutations in the copper- and zinc-containing superoxide dismutase gene are associated with "Lou Gehrig's disease".
Recent genetic analyses of patients with a familial, chromosome 21-linked form of amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease, suggest that mutations in the cytosolic copper/zinc superoxide dismutase (SOD1) gene may be involved in development of the disease. Although no functional disturbance of SOD1 activity has yet been identified, altered free radical protection may contribute to the destruction of motor neurons. The role of antioxidant status needs to be investigated as a possible preventive and therapeutic intervention for ALS.
D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*
D013482:Superoxide Dismutase