SOD1 (Superoxide Dismutase 1)

Category: biomarker

A gene encoding the antioxidant enzyme superoxide dismutase 1. Mutations cause ~2% of ALS cases through toxic gain-of-function protein aggregation.

Mechanism Detail

Mutant SOD1 protein misfolds and aggregates, forming intracellular inclusions toxic to motor neurons. The toxicity is not from loss of dismutase function but from gain of toxic properties — mitochondrial damage, ER stress, and impaired axonal transport. Over 200 different SOD1 mutations have been identified in ALS families.

Clinical Status

SOD1-ALS has the most advanced gene therapy (tofersen). SOD1 CSF levels serve as a pharmacodynamic biomarker for tofersen response. Genetic testing is standard for familial ALS.

Relevant Diseases

• ALS

Relevant Therapies

• Gene Therapy

Related Terms

• Tofersen
• Familial ALS
• Protein aggregation
• Oxidative stress