SOD1 gene
The SOD1 gene provides instructions for an enzyme that protects cells from damage by breaking down toxic oxygen molecules.
Normal Function
The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme binds to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals. These radicals are byproducts of normal cell processes and must be broken down regularly to avoid cellular damage.
Health Conditions Related to Genetic Changes
Amyotrophic lateral sclerosis
At least 200 mutations in the SOD1 gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, loss of muscle mass, and an inability to control movement. Most of these mutations change one of the amino acids in the superoxide dismutase enzyme.
About half of all Americans with ALS caused by SOD1 mutations have a specific mutation that replaces the amino acid alanine with valine at position 5 (Ala5Val or A5V). ALS caused by the A5V mutation is generally associated with a shorter life expectancy compared with other genetic mutations.
ALS is caused by the death of motor neurons. Researchers have suggested several ways in which the altered enzyme may cause this cell death, including:
- An increase in harmful superoxide radicals
- Increased production of other types of toxic radicals
- Increased cell death
- Accumulation of toxic clumps (aggregates) of misfolded superoxide dismutase
Other Names for This Gene
- ALS1
- Cu/Zn superoxide dismutase
- indophenoloxidase A
- IPOA
- SODC_HUMAN
- superoxide dismutase 1, soluble
- superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
- superoxide dismutase, cystolic
- superoxide dismutase-1, soluble