Understanding MTHFR: The Key to Unlocking Your Folate Metabolism

MTHFR is a term that’s gaining increasing attention in the world of nutrition and genetics. As a registered dietitian and CEO of Grounded Root Nutrition, I often hear from patients who say, “I have MTHFR” or ask, “What do I do about my MTHFR?” Today, we’re diving deep into this topic to demystify MTHFR and its crucial role in your health.

What is MTHFR?

First, let’s clear up a common misconception: we all have MTHFR. These genes are essential for our body to make, transport, and absorb folate. Without MTHFR, our bodies wouldn’t function properly. The real question is: what is the genetic combination of your MTHFR genes?

Understanding the Folate Cycle

To grasp the importance of MTHFR, we need to understand the folate cycle. The purpose of this cycle is to produce what we call “one carbon units.” These units are vital for several crucial bodily functions:

• Synthesizing DNA and RNA
• Producing neurotransmitters (the chemicals in our brain that we need for proper function)
• Generating methyl groups

In layman’s terms, this cycle supports:

• DNA production and repair
• Energy for the body
• Histamine balance
• Heart protection
• Any many more

The Importance of Folate

Folate deficiency is a significant concern, particularly for pregnant women. Adequate levels of folic acid are crucial in preventing neural tube defects such as spina bifida. These defects typically occur in the first four weeks of pregnancy, often before a woman even knows she’s pregnant.

To address this issue, the United States mandated grain fortification with folic acid in 1998. This initiative successfully reduced the incidence of neural tube defects and folate deficiency in the general population.

The Downside of Folate Fortification

While folate fortification has clear benefits, it’s not without potential drawbacks:

1. DNA synthesis interference: The form of folate used for fortification can block proper DNA synthesis, resulting in extra uracil cells being added.

2. Folate cycle inhibition: Too much folic acid can inhibit the folate cycle from moving forward properly, leading to poor methylation.

3. Neurotransmitter imbalance: For some patients, the increase in folic acid can create an imbalance in neurotransmitters like dopamine and serotonin, potentially leading to mental health challenges such as depression, anxiety, or ADD.

4. Masking B12 deficiency: High levels of folic acid in the blood can mask a vitamin B12 deficiency, potentially leading delayed detection and treatment of anemia.

5. Potential cancer risk: A 2008 Harvard Health article noted an uptick in colorectal cancer and polyps following folate fortification, though more research is needed to understand this connection fully.

Understanding Your MTHFR Genetic Combination

Most nutrigenomics tests use two specific RS numbers for MTHFR: 677 and 1298. The efficiency of your folate cycle decreases based on the number of SNPs (Single Nucleotide Polymorphisms) you have on these genes:

• 0 SNPs: 100% efficient
• 1 SNP: About 65% efficient
• 2 SNPs: 50% efficient
• 3 or 4 SNPs: 30-40% efficient

However, it’s crucial to understand that MTHFR is just one piece of the puzzle. In my practice, I look at 13 different genes in the methylation cycle alone, and even more when considering mood and behavior.

Beyond MTHFR: Co-factors and Helpers

It is incredibly important to remember that the folate cycle doesn’t operate in isolation. Several co-factors or “helpers” are required for optimal function:

• B vitamins: B1, B2, B3, B6, B9 (folate), and B12
• Minerals: Zinc, Magnesium, Iron, Molybdenum
• Other nutrients: Choline

These co-factors are crucial, especially if you have genetic inefficiencies. Some are in higher demand as they’re utilized in multiple bodily processes. It’s important to look at all angles here and not focus solely on folate.

From Supplementation to Food-Based Solutions

While supplementation may be necessary initially to replenish stores, the goal is to transition to a food-based approach. By understanding your genetic makeup and nutritional needs, you can tailor your diet to support optimal folate metabolism and overall health. In the next blog, we’ll take a look at food sources of folate.

Conclusion

Understanding your MTHFR genetic combination and its impact on your folate metabolism can be a game-changer for your health. It allows for a personalized approach to nutrition that can help you feel better mentally, physically, and emotionally.

Remember, while MTHFR is important, it’s just one part of a complex system. A comprehensive approach that considers multiple genetic factors, co-factors, and your individual health history is key to optimizing your wellbeing.

If you’re interested in learning more about how your genetics influence your nutritional needs, or if you’re seeking personalized guidance, don’t hesitate to reach out. Together, we can develop a nutrition plan that’s tailored to your unique genetic profile, helping you achieve optimal health and wellness.

Resources

Archibald A.  The Genomic Kitchen DNA Education and Mentoring Advanced Training Guide.  Accessed August 29, 2024.

Crider KS, Bailey LB, Berry RJ. Folic acid food fortification-its history, effect, concerns, and future directions. Nutrients. 2011 Mar;3(3):370-84. doi: 10.3390/nu3030370. Epub 2011 Mar 15. PMID: 22254102; PMCID: PMC3257747.

Harvard Health Publishing.  The ups and downs of folic acid fortification.  ~https://www.health.harvard.edu/womens-health/the-ups-and-downs-of-folic-acid-fortification~  Accessed September 4, 2024.  Published March 1, 2008.