Mutations in SOD1

Mutations in the SOD1 gene affect the production of superoxide dismutase 1, an enzyme that protects cells from damage caused by free radicals, which are harmful molecules produced during normal cellular processes. When SOD1 is mutated, it can lead to an unstable or dysfunctional enzyme, resulting in accumulated oxidative stress. This contributes to the degeneration of motor neurons, which can cause diseases like amyotrophic lateral sclerosis (ALS). Understanding these mutations helps researchers develop potential therapies aimed at slowing disease progression and protecting nerve cells.