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Genetics... How does the MTHFR Variant effect me?


A few years back I wrote on this topic and then I just had a great conversation in the office with someone about it. It reminded me that it's time to revisit the MTHFR genetic variant. In short, It’s a gene mutation that can impact the way a person handles methylation.

Methylation involves transferring methyl groups (one carbon/ 3 hydrogen atoms) to proteins, amino acids, enzymes and involves every cell and tissue in the body. This process helps facilitate healing, cellular energy, liver detoxification, immune health and nervous system function. It is clearly super important!

Research has shown that people with mutations in 2 types of MTHFR genes typically had higher rates of diseases like ADHD, Alzheimer’s disease, depression, atherosclerosis, auto immunity and other other conditions. (1) In practice, I see this mutation affect joint health, causing things like joint pain, symptoms that mimic Fibromyalgia and I see it in most of the clients I work with who have been diagnosed with cancer. Those with a defect can experience hormone issues (because they are not metabolizing out hormones as well as they could) and sometimes anxiety. The anxiety piece seems to effect those with a more severe mutation, specifically at the C677t gene.

One study shows us that close to 40% of people are affected to some degree with this genetic mutation. (2) I have also seen some statistics that suggest that only 10% of Medical providers address this issue in any way in their practices. This seems like a major disconnect to me.

A person can have different degrees of mutation that determine what kind of impact this might have on their health. Genetic testing can easily help identify whether a person is affected by this, and to what degree. Once this information is available, changes can be made to lifestyle to make sure the damage is mitigated and health is maximized to the extent possible.

What happens if this goes undetected? Mutation of one of the genes for this mutation, C677T, can cause an impaired breakdown of Homocysteine. Elevation of Homocysteine is know to be a risk factor for cardiovascular disease and has been linked to conditions like Alzheimer’s. I look at homocysteine as part of my routine blood panel for this reason.

There are some things that all of us can be doing to make sure we are doing that will help minimize our risk factors for issues associated with MTHFR mutations. Testing will answer the question definitely. Sometimes I think the test will be helpful and sometimes I think we are going to do everything we would do if the test results showed a variant, so I wouldn't necessarily recommend a test. A double mutation at the C677t gene will be the only reason I change my recommendations, so if I suspect that, I think it's worth a test.

I tell my clients that there are things we can absolutely be doing whether we have this mutation or not that will help promote good health. Here they are:

  • Eat a diet rich in vegetables, especially dark, green, leafy, cruciferous veggies. This is just plain old good advice. These foods are all great sources of bio-available folate and help decrease homocysteine and provide a good source of B9, or folate.

  • Eat foods that are “Methyl Donors”. This helps support healthy methylation that we discussed above. These foods include onion, garlic, beets, asparagus, fish, eggs and the green leafy veggies that are also rich in Folate. Turns out those veggies are really good for you!

  • Avoid Folic Acid. This is the cheap, synthetic version of B9 and is not easily broken down by those impacted by an MTHFR variant. Methylated forms of B vitamins are a much better choice. Folic acid tends to be not only in most multivitamin and B complex supplements, but is also found in energy drinks and “enriched” or “fortified” wheat products. Check the labels!

My favorite supplement for methylated B vitamins can be found in my fullscript account. It's called Mitocore. It's free to create an account and take a look! It's a great energy support that I use as a multivitamin with a healthy dose of methylated B vitamins! I take this every day and love it!


Those are just a few quick suggestions that can make a HUGE impact on your health in general, and specifically if you are impacted by this MTHFR genetic mutation.

Are you one of the almost 40% of people impacted by this? I have seen many people drastically improve their health by understanding and addressing this issue. Most of them had not even heard of this before.

If you would like to speak with me about this or any other health concern, feel free to click below and schedule a free discovery call. I'm happy to listen and try to help!


To your health!

Dr. Jeni

(1) Yang, B., Fan, S., Zhi, X., Xia, R., Wang, Y., Zheng, Q., & Sun, G. (2017). Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population. Clinical Genetics. PMID: 27888505

(2) https://pubmed.ncbi.nlm.nih.gov/32722170/

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