Understanding MTHFR Test Results

Unraveling MTHFR: A Comprehensive Guide

The human body is a complex system, and understanding its intricacies can often seem like a daunting task. One such complexity lies in our genes, specifically the MTHFR gene. This gene, and the enzyme it produces, plays a crucial role in our health. However, mutations in this gene can lead to a variety of health issues. In this article, we will delve into the world of MTHFR, exploring its function, the implications of its mutations, and how to manage these mutations effectively.

What is MTHFR?

MTHFR stands for Methylenetetrahydrofolate Reductase. It is a key regulatory enzyme in the metabolism of folate and also refers to a specific gene that plays a major role in the body’s methylation process. Both the enzyme and the gene share the same name, MTHFR.

When people refer to “MTHFR,” they’re typically discussing one of the two common MTHFR gene mutations that cause the enzyme to become less effective in the body. These mutations can lead to imperfect folate coenzymes, which do not function properly, affecting various downstream processes such as DNA synthesis, neurotransmitter balance, cardiovascular health, and more.

The Impact of MTHFR Mutations

The MTHFR gene’s role is complex, and its polymorphisms (or variants) have been the focus of recent discoveries by the Human Genome Project. We now know that there are as many as 60+ variants of the MTHFR gene, with the two most well-known being 677 and 1298, discovered in 1995 and 2001, respectively.

These MTHFR SNPs (Single Nucleotide Polymorphisms) are often referred to as ‘mutations’ or ‘defects’ because of the problems they cause in the body. They inhibit the body’s ability to methylate (or convert folate into L-5-Methyltetrahydrofolate – which the body requires for absorption and direct use). Instead, these mutations produce imperfect folate coenzymes, which don’t work properly, affecting a range of important downstream processes.

Understanding MTHFR Test Results

Even though there are more than 60 possible MTHFR gene mutations, most of the MTHFR Blood Tests used today only check for the two SNPs that are considered “common”: 677 and 1298. Since we all get one copy of the MTHFR gene from each parent, a person could have many different combinations, as well as the problems that go with it. In fact, it’s very rare, but some folks can have 3 mutations (a double mutation on one gene and a single mutation on the other), or even 4 mutations in extraordinarily rare cases.

Managing MTHFR Mutations

Despite the complexity of MTHFR mutations, there are ways to manage them effectively. Nutritional supplements, for instance, can help individuals with these mutations feel better. These supplements can provide the body with the necessary methylfolate it needs, bypassing the metabolic pathway that the MTHFR gene defect inhibits.


Understanding the MTHFR gene and its mutations is crucial for maintaining optimal health. While the science may seem complex, the key takeaway is simple: if you have an MTHFR mutation, there are ways to manage it effectively. By staying informed and taking the right supplements, you can ensure that your body gets the nutrients it needs to function at its best.

Want to learn more?

Here is a full article detailing all of the research on MTHFR, including how to check your MTHFR SNPs from 23andMe.



Abhinand, P. A., Shaikh, F., Bhakat, S., Radadiya, A., Bhaskar, L. V. K. S., Shah, A., & Ragunath, P. K. (2016). Insights on the structural perturbations in human MTHFR Ala222Val mutant by protein modeling and molecular dynamics. Journal of Biomolecular Structure & Dynamics, 34(4), 892–905. https://doi.org/10.1080/07391102.2015.1057866
Adaikalakoteswari, A., Finer, S., Voyias, P. D., McCarthy, C. M., Vatish, M., Moore, J., Smart-Halajko, M., Bawazeer, N., Al-Daghri, N. M., McTernan, P. G., Kumar, S., Hitman, G. A., Saravanan, P., & Tripathi, G. (2015). Vitamin B12 insufficiency induces cholesterol biosynthesis by limiting s-adenosylmethionine and modulating the methylation of SREBF1 and LDLR genes. Clinical Epigenetics, 7(1), 14. https://doi.org/10.1186/s13148-015-0046-8
Mthfr gene: Medlineplus genetics. (n.d.). Retrieved August 13, 2021, from https://medlineplus.gov/genetics/gene/mthfr/
Nowak, I., Bylińska, A., Wilczyńska, K., Wiśniewski, A., Malinowski, A., Wilczyński, J. R., Radwan, P., Radwan, M., Barcz, E., Płoski, R., Motak-Pochrzęst, H., Banasik, M., Sobczyński, M., & Kuśnierczyk, P. (2017). The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population. PLoS ONE, 12(10), e0186022. https://doi.org/10.1371/journal.pone.0186022
Rai, V. (2017). Association of C677T polymorphism (Rs1801133) in MTHFR gene with depression. Cellular and Molecular Biology (Noisy-Le-Grand, France), 63(6), 60–67. https://doi.org/10.14715/cmb/2017.63.6.13