SOD1 gene mutation

SOD1 gene mutation affects the production of superoxide dismutase 1, an enzyme that protects cells from damage caused by harmful molecules called free radicals. When the gene mutates, it can lead to a faulty enzyme, causing cells—particularly motor neurons in the nervous system—to become damaged or die. This damage impairs muscle control and movement, often seen in a form of motor neuron disease called amyotrophic lateral sclerosis (ALS). The mutation is inherited in some cases, but the exact process by which it causes disease is still under investigation.