MTHFR Mutations & How to Treat Them

Genetics are becoming increasingly useful in the tailoring of our medical care to individual needs of patients. One example of this that has gained attention in recent years is the MTHFR mutation. As a functional medicine doctor who also happens to carry the MTHFR mutation, I have personal and professional experience in understanding the implications and treatment approach for this condition. What follows is a basic description of the MTHFR mutation, why it’s important to know whether or not you carry this mutation, and how to treat it. 

Understanding the MTHFR Mutation

The MTHFR gene, short for methylenetetrahydrofolate reductase (say that five times fast), plays a crucial role in the body's methylation capacities. Methylation is a biochemical process that influences various bodily functions, including detoxification, hormone regulation, neurotransmitter synthesis, and DNA repair. The MTHFR mutation, a common genetic variation, can affect the efficiency of this process, potentially leading to or exacerbating underlying health issues. 

Impact on Health

Individuals with the MTHFR mutation may experience challenges in converting folate (aka Vitamin B9) into its active form, methylfolate. Pregnant people need adequate levels of this vitamin to ensure fetal health and prevent neural tube defects. Inefficient methylation of folate can also result in elevated levels of homocysteine, an amino acid linked to cardiovascular issues, and may contribute to conditions such as cardiovascular disease, mood disorders, and the pregnancy complications mentioned above. It also is being investigated as a potential risk factor for cancer development. 

My Personal Journey

I tested myself for the MTHFR mutation after discovering that I had a blood clotting genetic disorder (blood clotting conditions can be associated with this mutation) and after years of working on my chronic (since I was in grade school) fluctuating anxiety and depressed mood. For me, it was a missing puzzle piece that helped to explain why I continued to experience mood fluctuations despite years of supplementation, healthy lifestyle, meditative practices, and exercise. Once I discovered that I had the mutation, I became diligent in treating it through the points mentioned below. I also started a prescription medicine for mood, which I’ll discuss in a future post. Knowing about my MTHFR condition helped to open my mind to taking medication. I realized that I have an inherent genetic condition that inhibits my ability to keep up from a neurotransmitter perspective, so it makes sense that I need a little extra help to treat my anxiety. The improvements I’ve noticed since I began focusing on treating the effects of this mutation have been significant in improving my quality of life and allowing me to feel some peace of mind about my long term health. I’d encourage anyone reading this to get a very simple blood test to confirm or rule out the mutation and begin treating it if needed. 


Holistic Treatment Approaches

  • Methylated Supplements:

    • Incorporating methylated forms of B vitamins, such as methylfolate (5-MTHF) and methylcobalamin (B12), can bypass the conversion process affected by the MTHFR mutation, supporting overall methylation. I like to use a methylated B complex supplement in folks who have normal B12 & folic acid levels at baseline. 

    • Incorporate a supplement that will reduce homocysteine levels, such as trimethylglycine. 

  • Dietary Choices:

    • Prioritize a diet rich in folate-containing foods, such as leafy greens, beans, and lentils.

    • Limit processed foods and refined sugars, which can negatively impact methylation.

  • Lifestyle Modifications:

    • Manage stress through practices like meditation, yoga, or deep breathing exercises, as stress can influence methylation.

  • Detoxification Support:

    • Enhance the body's natural detoxification pathways through activities like regular exercise, saunas, and adequate hydration. I purchased a sauna blanket about a year ago that I absolutely love, if you don’t have a nearby gym with a sauna. Be sure to look for discount codes!

  • Individualized Approach:

    • Work with healthcare professionals, including genetic counselors and functional and integrative medicine physicians, to tailor a personalized treatment plan based on your unique genetic profile and health goals. To inquire about a consultation with me, click here

By testing and treating this mutation, we can take preventative measures to support our overall health and wellbeing. By adopting a holistic and individualized approach to wellness, folks with the MTHFR mutation can optimize their homocysteine levels and methylated b vitamin levels and may notice mood, energy, and long-term health benefits.

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