Recently there has been a lot of talk about new science pertaining to the MTHFR gene. The MTHFR gene mutation is present in about 40% of the population (11) and may cause the body to have low levels of folate and high levels of homocysteine; although, presence of the gene mutation does not necessarily mean that this is the case.
What is the MTHFR gene?
MTHFR stands for methylenetetrahydrofolate reductase and is a regulatory enzyme that acts as a catalyst to speed up reactions within the body. It is located on chromosome 1 (9) and present in folate and homocysteine (1). It provides the body with directions for how to create the MTHFR protein which assists the body with folate production. Some people unknowingly live with a MTHFR gene mutation and it can cause them to potentially have low levels of folate and high levels of homocysteine.
Signs of an MTHFR gene mutation
Side effects that could come along with the MTHFR gene mutation include abnormal blood clotting, developmental delays, seizures, microcephaly, blood clots, poor coordination or numbness or tingling of the hands and feet. A study was completed by S. Pamela et al that found that a deficiency in the MTHFR enzyme correlated with an increase of colorectal cancer risk (3).
How do I know if I have the MTHFR gene mutation?
In order to test if the MTHFR mutation is present, there are 2 options for at-home testing, 23andMe and My MTHFR Gene Test by empowerDX. They are both non-invasive and can be completed with a saliva sample. If the MTHFR gene mutation is present, it may be beneficial to consume folate or folic acid to make up for the limited amount of folate the body is producing. In this case, a blood test can better determine if supplementation is necessary.
What is folate?
Folate is “nutritionally essential for the support of optimal human health and development” (8). It is used for protein metabolism, assists in forming DNA and RNA and is necessary to produce red blood cells. Folate helps break down homocysteine which can be detrimental when it builds up in the body.
If folate is not able to break down homocysteine, homocysteine will then accumulate in the blood. When the homocysteine is broken down properly, it can then build other proteins, but without folate, that is not possible (2). High levels of homocysteine can lead to arterial damage or even blood clots. And while increasing B6, B12 and folic acid will lower the levels of homocysteine, it does not decrease the risk of cardiovascular disease (2).
How can I get more folate?
Since B vitamins are water soluble, they must be consumed on a regular basis through food sources or supplementation. In foods, vitamin B9, also called folate, occurs naturally (7). Folate is a term that is used for food folates that occur naturally in many forms of vitamin B9. One can consume vitamin B9 through leafy greens, green beans, cabbage, chickpeas, pinto beans, kidney beans, citrus fruits and whole grains (7).
Folic acid is folate in a synthetic form. It is added to many foods that are “fortified”. There is an argument that folic acid, the synthetic form, is more bioavailable than folate (which essentially means more readily used and circulated in the body). Individual bioavailability is based on diet, the individual, and how diet affects an individual. Many scientists agree that the folic acid bioavailability averages at 65% (4). While folic acid may be more bioavailable, there is a strong argument for concentrating on foods high in folate because one would be consuming a high amount of folate while also benefiting from polyphenols, fiber and antioxidants present in the entire food that will lead to better overall health.
If one chooses to supplement, it is not recommended to take more than 400mcg daily for men and women (7), otherwise it could conceal a B12 vitamin deficiency. Vitamins B9 and B12 are involved in producing red blood cells so a deficiency in either could lead to anemia. A deficiency in B12 over a long period of time could result in damage to the brain and nervous system (10).
It is important to note, that at the time this article was written, there is very limited data on any additional diet recommendations for those with the MTHFR gene mutation.
This post was co-written by Nutrition Student and Nutrition Enthusiast, Ashley Lyons
References:
- Leclerc, Daniel, et al. “Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms.” NIH National Library of Medicine, www.ncbi.nlm.nih.gov/books/NBK6561. Accessed 22 July 2022.
- Moll, Stephan, and Elizabeth Varga. “Homocysteine and MTHFR Mutations.” Circulation, www.ahajournals.org/doi/10.1161/circulationaha.114.013311. Accessed 7 July 2015.
- Shiao, S. Pamela K., et al. “Personalized Nutrition—Genes, Diet, and Related Interactive Parameters as Predictors of Cancer in Multiethnic Colorectal Cancer Families.” NIH, www.ncbi.nlm.nih.gov/pmc/articles/PMC6024706. Accessed 20 June 2018.
- Caudill, Marie. “Folate Bioavailability: Implications for Establishing Dietary Recommendations and Optimizing Status.” NIH, 10 Mar. 2010, www.ncbi.nlm.nih.gov/pmc/articles/PMC2854911.
- Dean, Laura. “Methylenetetrahydrofolate Reductase Deficiency.” NIH, 8 Mar. 2016, www.ncbi.nlm.nih.gov/books/NBK66131/#.
- Anderson, Shanna. “Anxiety and Methylenetetrahydrofolate Reductase Mutation Treated With S-Adenosyl Methionine and Methylated B Vitamins.” NIH, 15 Apr. 2016, www.ncbi.nlm.nih.gov/pmc/articles/PMC4898281.
- Institute of Medicine (US) Standing Committee on the Scientific Evaluation of Dietary Reference Intakes and its Panel on Folate, Other B Vitamins, and Choline. Washington (DC): National Academies Press (US); 1998.
- Naderi, Nassim, and James House. “Recent Developments in Folate Nutrition.” NIH, 2 Feb. 2018, pubmed.ncbi.nlm.nih.gov/29477222.
- Siaw-Cheok Liew, and Esha Das Gupta. “Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism: Epidemiology, Metabolism and the Associated Diseases.” NIH, 4 Nov. 2014, pubmed.ncbi.nlm.nih.gov/25449138.
- Black, Maureen. “Effects of Vitamin B12 and Folate Deficiency on Brain Development in Children.” NIH, 29 July 2008, www.ncbi.nlm.nih.gov/pmc/articles/PMC3137939.
- Chita, Dana Simona et al. “MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity.” NIH, 24 July 2020, pubmed.ncbi.nlm.nih.gov/32722170.
