SOD1: Genetic Variants in Our Antioxidant Defense System

SOD1 AntioxidantsSuperoxide dismutase 1 (SOD1) is the gene that codes for the copper-zinc superoxide dismutase enzymes which help protect against oxidative stress and detoxify reactive oxygen species.

Three types of superoxide dismutases are part of our built-in antioxidant system:  SOD1, found in the cytosol or fluid in cells; SOD2, a mitochondrial antioxidant; and SOD3, which is extracellular.[ref]

SOD1 binds copper and zinc ions and destroys free radicals.  It is an ‘antioxidant’ that our body produces which converts superoxide radicals into oxygen and hydrogen peroxide.  The hydrogen peroxide then can be broken down by other enzymes.  Reactive oxygen species do have a role in health, but they need to be in balance with antioxidants.

SOD1 variants cause either an increase or decrease of enzyme activity.  Mutations in SOD1 have been linked with several diseases including an inherited form of ALS (Lou Gehrig’s disease). [ref]  More common variants are linked with conditions such as diabetes and hearing damage.

SOD1 Genetic Variants:

SOD1 variants have also been studied in regards to nephropathy (kidney disease) and cardiovascular events in people with type 2 diabetes.  A 2012 study of 3,744 people with diabetes found that rs1041740 was associated with microalbuminuria, which is caused by kidney problems, as well as an increased risk of death due to cardiovascular reasons.  The risk of death from heart disease isn’t limited just to those with type 2 diabetes, as a 2016 study showed an increased risk of death from heart disease for those who were homozygous for the T allele.

In type 1 diabetes, oxidative stress plays a role in kidney disease.  SOD enzymes protect against kidney disease through detoxifying reactive oxygen species.  In a 2011 study of 1,258 type 1 diabetics (Caucasian), the T-allele of rs1041740 was associated with a more than 5 times greater risk of kidney disease. [ref]

Check your 23andMe results for rs1041740:

  • T/T: increased risk for kidney problems in diabetes, increased risk of death from heart disease
  • C/T: increased risk of kidney disease in T1D
  • C/C: normal

Oxidative stress is thought to play a role in Alzheimer’s disease as well, and SOD1 variants have been studied to see if they affect the risk of Alzheimer’s.  For rs2070424, the G allele was found to be protective against Alzheimer’s disease regardless of APOE gene status. [ref] [ref](See my article on APOE and Alzheimer’s to determine your APOE type.)

Check your 23andMe results for rs2070424:

  • A/A:  normal
  • A/G:  protective against Alzheimer’s Disease (OR=0.47)
  • G/G:  higher SOD1 enzyme activity, protective against Alzheimer’s Disease (OR=0.47) [ref] protective against myelomeningocele (neural tube defect) [ref]

Hearing loss is also associated with SOD1 antioxidant activity. In one study, the G/G genotype of rs10432782 was associated with a higher risk of noise-induced hearing loss.  That G/G genotype of rs10432782 also showed higher SOD1 activity. [ref]

Check your 23andMe results for rs10432782:

  • T/T:  wildtype
  • G/G:  higher SOD1 enzyme activity, greater risk of noise-induced hearing loss [ref]

Nutrition Plays a Role…

  • There are SOD supplements by Seeking Health made from extramel melon juice. The reviews seem pretty good, but I haven’t tried it myself.
  • Acai freeze-dried powder, in an animal model of SOD1 deficiency, was found to increase healthy aging and reduce oxidative damage.  Freeze-dried Acai powder can be found online, and acai juice can be found in most grocery stores.
  • Resveratrol was found to increase SOD1 activity in a couple of studies, but other studies didn’t find much of an effect.
  • Copper and Zinc are needed by the body for normal SOD1 function.  Copper deficiency is associated with reduced SOD activity, but always be sure to do a blood test to make sure that you are deficient in copper before thinking about supplementing with it.

More to Read…
Superoxide Dismutase supplement pill SOD  benefit and risk, by Ray Sahelian, M.D.

Author Information:   Debbie Moon
Debbie Moon is the founder of Genetic Lifehacks. She holds a Master of Science in Biological Sciences from Clemson University and an undergraduate degree in engineering. Debbie is a science communicator who is passionate about explaining evidence-based health information. Her goal with Genetic Lifehacks is to bridge the gap between the research hidden in scientific journals and everyone's ability to use that information. To contact Debbie, visit the contact page.