SOD1 mutations

SOD1 mutations refer to changes in the gene that produces the enzyme superoxide dismutase 1 (SOD1), which helps protect cells from damage caused by harmful molecules called free radicals. These mutations can cause the enzyme to malfunction or become toxic, leading to the death of nerve cells, particularly motor neurons that control muscle movement. This improper functioning is linked to amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that results in muscle weakness, paralysis, and eventually loss of voluntary movement. The presence of SOD1 mutations accounts for a subset of familial ALS cases.