G93A SOD1

G93A SOD1 refers to a specific mutation in the SOD1 gene, which produces an enzyme called superoxide dismutase 1. This enzyme helps protect cells from damage caused by harmful molecules called free radicals. The G93A mutation changes the enzyme's structure, leading to its dysfunction. This misfolded or damaged enzyme accumulates in nerve cells, particularly in motor neurons, contributing to their degeneration. Such degeneration is a hallmark of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The G93A mutation is used in research to study ALS and develop potential treatments.