SOD1: Genetic Variants in Our Antioxidant Defense System

Our body has built-in antioxidants that fight against cellular stress. The superoxide dismutase enzyme fights against oxidative stress in your cells.

SOD1: Superoxide Dismutase 1

The SOD1 gene codes for the copper-zinc superoxide dismutase enzyme. This cellular enzyme protects against oxidative stress through deactivating reactive oxygen species (ROS).

Three types of superoxide dismutases are part of our built-in antioxidant system: [ref]

  • SOD1, found in the cytosol or fluid in cells
  • SOD2, a mitochondrial antioxidant
  • SOD3, which is extracellular or outside of the cells

SOD1 binds copper and zinc ions together 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.

Balancing out oxidation reactions:

This is all about electrons here… Superoxide is two oxygen molecules bonded together but with one electron missing (O2). Normal oxygen that we breathe in the air is a stable combo of two oxygen molecules. The superoxide compound which lacks an electron is highly reactive, wanting to bind with another molecule to balance out its charge.

SOD1 – superoxide dismutase 1 – can counteract the superoxide produced in cellular reactions.

While we often think of antioxidants being good and reactive oxygen species such as superoxide as being ‘bad’, ROS does play a vital role in cell signaling. Our cells need to be in balance with antioxidants and pro-oxidants.

Additionally, pro-oxidants such as superoxide are produced by our immune system to kill invading pathogens.

Balance is key, and SOD1 provides that balance.

Research on SOD1

Research on the different genetic variants shows that SOD1 impacts heart disease risk, kidney disease, hearing loss, and diabetes. Oxidative stress plays a role in all of these chronic conditions, and decreased SOD1 (or too much ROS) can contribute to the development of these diseases.[ref][ref]

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]  (Check your APOE genes  if you want to know more about your Alzheimer’s risk)

Overall, higher SOD activity is linked to decreased mortality in women. Oddly, this statistic didn’t hold true for men. [ref]

SOD1 in ALS:

One of the first genetic mutations linked to the familial form of ALS was in the SOD1 gene. More recent research points to misfolded SOD1 proteins being present both in the hereditary type of ALS (about 10% of ALS patients) and in the sporadic type. While there is still a lot that researchers don’t know here, it looks like the SOD1 mutations cause a gain-of-function and altered folding in a way that causes a loss of motor neuron function.[ref]


SOD1 Genetic Variants:

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SOD1 genetic variants can 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, cardiovascular disease, kidney disease, and hearing damage.

Check your genetic data for rs1041740 (23andMe v4, v5;; AncestryDNA):

  • T/T: significantly increased risk for kidney problems in people with diabetes, increased heart disease mortality risk [ref]ref][ref]
  • C/T: increased risk of kidney disease in T1D
  • C/C: normal

Members: Your genotype for rs1041740 is .

 

Check your genetic data for rs2070424 (23andMe v4; AncestryDNA):

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

Members: Your genotype for rs2070424 is .

 

Check your genetic data for rs10432782 (23andMe v4 only):

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

Members: Your genotype for rs10432782 is .


Lifehacks:

Supplements:

Acai freeze-dried powder, in an animal model of SOD1 deficiency, was found to increase healthy aging and reduce oxidative damage.[ref]  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,[ref] but other studies couldn’t replicate those results.[ref]

There are SOD supplements on the market that are made from extramel melon juice.

Vitamins and Minerals:

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 supplementing with it. Likewise, your zinc levels can be checked in a blood test to make sure you are in balance there.

Foods high in zinc include pumpkin seeds, oysters, beef, crab, and chicken. Foods that are high in copper include beef liver, oysters, chocolate, and potatoes (with skin).

Vitamin C showed promise in repairing rotator cuff tears a mouse model of low SOD1 function. [ref]

 

Originally published 10/2015, updated 9/2020



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 from Colorado School of Mines. 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.