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MTHFR Gene Mutation
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MHTFR Gene Mutation
Beth Ley Knotts, Ph.D.

Are you Tired, Depressed, Irritable, Run-down, Susceptible to Infections, Foggy-brained, and Just Plain "Toxic” and No One Can Tell You Why?

It Could Be Your Genetics!


Over half of the US population is thought to have a genetic mutation that causes methylation insufficiency due to reduced MTHFR enzyme function. Those with a MTHFR gene mutation have a highly reduced ability to convert folic acid or even folate into a usable form.


What Is MTHFR?

MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation . The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.

Contrary to how it looks, “MTHFR” is not an abbreviation for a curse word, but a shortened form of methylenetetrahydrofolate reductase.

Both MTHFR and COMT genes are involved in the methylation pathway and testing their function is an important component of your anti-aging strategy. Think of billions of on/off switches that control most of your body’s functions such as:
  • Brain chemistry important for mood, anxiety and stress
  • Immune function
  • Controlling inflammation
  • Energy production
  • Ability to sleep (insomnia is common)
  • Detoxification of chemicals and toxins
  • Cardiovascular health - especially blood pressure and homocysteine levels.
  • Nitric Oxide (NO) production

When methylation is working, it helps you feel full of energy, in a good mood, and just generally well! When it is not working, you can feel tired, depressed, irritable, run-down, susceptible to infections, foggy-brained, and just plain "toxic."

Individuals with low activity of the MTHFR enzyme may present with elevated homocysteine levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.

What does it mean to have a defective MTHFR gene?

Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals.

Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant.

In short, we are just learning the extent to which this can affect health, but there is strong evidence that because of the affect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibly contribute to or exacerbate other problems like insomnia, autoimmune disease, mental issues and more.


What to do:

Those with a genetic mutation in MTHFR should consider taking activated folate (methylfolate) vs. regular folic acid. Individuals with the MTHFR gene actually have a difficult time processing folic acid that is present in most cheap supplements and added to processed foods. Some professionals claim that this type of folic acid may even cause a build-up in the body leading to toxicity. Studies have also showed that folic acid supplements may increase cancer risk… one more reason to ditch processed foods and your multivitamin!

Genetic testing is available with a simple check swab.

Genetic testing allows you to see inside your own DNA in order to draw a personalized map regarding imbalances that might impact your health. Genetic mutations are simply pieces of a much larger puzzle that allow you to see "potential" risks and take action in a preventative fashion. Although genetic mutations do not change over time, understanding them allows you to choose diet, supplementation and lifestyle changes to support good health.

Contact me if you are interested in this test. Cost is around $200.00