Superoxide Dismutase 1 (SOD1)

Authors

Affiliations

Nathaniel Yomogida, B.S., SPT

Doctor of Physical Therapy

B.S. in Kinesiology

Chloë Kerstein, B.S., SPT

Doctor of Physical Therapy

B.A. in Neuroscience

Overview

Superoxide Dismutase 1 (SOD1) refers to a specific gene on chromosome 21¹.

Function

Prevention of Neuronal Degeneration

SOD1 encodes for enzymes such as CuZnSOD. CuZnSOD along with the other SOD isoforms play a role in removing oxygen free radicals from the body¹. Gene mutations lead to less activity of CuZnSOD, resulting in accumulation of free radicals and resulting in neuronal degeneration¹.

Most mutations in FALS have shown only modest reductions in enzyme activity¹. Leading researchers to believe that a mutant SOD1 protein may have actively toxic properties¹.

Mutation

Amyotrophic Lateral sclerosis

• One of 100s of mutations in SOD1 have been linked to hereditary ALS¹.
• Studies of patients with adult-onset FALS have determined that about 20% of these individuals have mutations in SOD1¹

References

1.

O’Sullivan SB, Schmitz TJ, Fulk GD, eds. Physical Rehabilitation. 7th ed. F.A. Davis Company; 2019.