MTHFR: Genetic Cause of Infertility May be Reversible

March 1, 2023
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When we think of genetics, we often think “irreversible.” However, that is NOT always the case. There are certain genetic mutations that when supported adequately can be managed well and the diseases caused by those mutations can be prevented or even reversed! One such genetic mutations that can impact fertility is the MTHFR genetic mutation. 

The MTHFR gene is responsible for producing the methylenetetrahydrofolate reductase enzyme, which plays a crucial role in the body’s methylation cycle. Methylation is a process that occurs in every cell of the body, and it is responsible for the activation and deactivation of genes, as well as the regulation of many important bodily functions.

The MTHFR gene mutation is a genetic variation that can impact the function of this enzyme and can lead to a range of health issues, including infertility. 

To simplify: If you have one SNP (single nucleotide peptide) of this genetic mutation and were exposed to mercury from fish then your ability to detoxify that mercury is going to be about half of that of someone who does not have the mutation.

This means there will be mercury circulating in your bloodstream leading to inflammation and all of the other issues mentioned. Basically, it’s going to take a lot more work to detoxify that mercury than for someone who does not have the mutation. 

Infertility is a common condition that affects millions of couples worldwide. Many factors can contribute to infertility, including genetic factors, lifestyle factors, and environmental factors. The MTHFR gene mutation is one genetic factor that has been linked to infertility in both men and women.

The MTHFR gene mutation can impact fertility in several ways. First, the mutation can lead to a deficiency in the methylation cycle, which can affect the production of estrogen and other hormones that are essential for fertility. This can result in irregular menstrual cycles, anovulation (lack of ovulation), and decreased ovarian reserve in women, and decreased sperm count and motility in men.

Second, the MTHFR gene mutation can increase the risk of blood clotting disorders, such as deep vein thrombosis (DVT) and pulmonary embolism (PE), which can impact blood flow to the reproductive organs. Reduced blood flow can lead to decreased ovarian function, poor egg quality, and decreased sperm motility and function.

Third, the MTHFR gene mutation can affect the body’s ability to detoxify, leading to an accumulation of toxins that can impact fertility. The accumulation of toxins can interfere with hormone production, decrease sperm quality and motility, and impact the quality of the developing embryo.


If you are struggling with infertility, it is important to speak with your healthcare provider about testing for the MTHFR gene mutation. The mutation can be detected through a blood test. 

  • Take methyltetrahydrofolate and methylcobalamin daily (never folate/folic acid)
  • Support detox pathways with liver supportive foods, filtered water, and sweating
    -Liver supportive foods include broccoli, brussels sprouts, artichoke, radishes, turnips, beets, dandelion
  • Avoid processed foods, foods enriched with folic acid, and alcohol
  • Manage stress with healthy coping mechanisms like journaling and meditation.
  • Choline and SAM-e are also other supplements that may be considered.

You can find the supplements mentioned in my Fullscript Dispensary. I’ve created a protocol for those with the MTHFR gene mutation. 

The MTHFR gene mutation is a genetic variation that can impact fertility in both men and women. If you are struggling with infertility, it is important to test for the MTHFR genetic mutation. With proper treatment and support, it is possible to overcome the challenges of infertility and achieve a successful pregnancy. 

If you’d like to work with me at Mahan Health, schedule your complimentary call today! I’d love to support you on your journey to parenthood!

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