Introduction
MTHFR (Methylenetetrahydrofolate reductase) is an enzyme involved in the methylation of homocysteine to methionine. The gene encoding this enzyme is known as the MTHFR gene, which has several common polymorphisms. The two most studied polymorphisms are C677T and A1298C. These polymorphisms may affect the activity of the MTHFR enzyme, leading to elevated homocysteine levels and reduced methionine production (1). This can have implications for several health conditions, including cardiovascular disease, neural tube defects, and even depression. In this article, we will discuss how to test for the MTHFR gene and various ways to treat it.
Testing for the MTHFR Gene
Testing for the MTHFR gene can be done through a blood or saliva test. This test will identify if an individual has one or both copies of the C677T and A1298C polymorphisms. A healthcare provider can order the test, and in some cases, it can be done through direct-to-consumer genetic testing companies. However, discussing these results with a healthcare provider for proper interpretation is essential.
Treating MTHFR with Supplements
Supplementation with specific vitamins and nutrients may support methylation and reduce homocysteine levels for individuals with one or both copies of the MTHFR polymorphisms. These supplements include:
Folate
Individuals with the MTHFR polymorphism may have reduced activity of the enzyme that converts folic acid into its active form, methylfolate. Therefore, supplementation with methylfolate is recommended to support methylation and lower homocysteine levels. Studies have shown that supplementation with methylfolate can significantly reduce homocysteine levels in individuals with the MTHFR polymorphism (2).
Vitamin B12
Vitamin B12 is required for the conversion of homocysteine to methionine. Individuals with the MTHFR polymorphism may have reduced activity of this pathway, leading to elevated homocysteine levels. Therefore, supplementation with vitamin B12 is recommended to support methylation and lower homocysteine levels. Studies have shown that supplementation with vitamin B12 can lead to significant reductions in homocysteine levels in individuals with the MTHFR polymorphism (3).
Betaine
Betaine is a nutrient found in foods such as beets and spinach. It is involved in the methylation of homocysteine to methionine. Individuals with the MTHFR polymorphism may have reduced activity of this pathway, leading to elevated homocysteine levels. Therefore, supplementation with betaine is recommended to support methylation and lower homocysteine levels. Studies have shown that supplementation with betaine can significantly reduce homocysteine levels in individuals with the MTHFR polymorphism (4).
Conclusion
Testing for the MTHFR gene can identify individuals who may have reduced activity of the MTHFR enzyme, leading to elevated homocysteine levels and reduced methionine production. Supplementation with methylfolate, vitamin B12, and betaine can support methylation and lower homocysteine levels in individuals with the MTHFR polymorphism. Discussing these results and recommendations with a healthcare provider for proper interpretation and personalized treatment is essential.
References:
- Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A., Matthews, R. G., & Rozen, R. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics, 10(1), 111-113. https://www.nature.com/articles/ng0595-111
- Huang, T., Tucker, K. L., Lee, Y. C., & Crott, J. W. (2017). Effect of Folate on Homocysteine Levels and Cardiovascular Risk Factors in Patients with MTHFR Polymorphisms: A Meta-analysis of Randomized Controlled Trials. American Journal of Clinical Nutrition, 105(2), 324-337. https://doi.org/10.3945/ajcn.116.139061
- Jacques, P. F., Selhub, J., Bostom, A. G., Wilson, P. W., & Rosenberg, I. H. (1999). The Effect of Folic Acid Fortification on Plasma Folate and Total Homocysteine Concentrations. New England Journal of Medicine, 340(19), 1449-1454. https://www.nejm.org/doi/full/10.1056/NEJM199905133401901
- Olthof, M. R., van Vliet, T., Boelsma, E., & Verhoef, P. (2003). Low Dose Betaine Supplementation Leads to Immediate and Long Term Lowering of Plasma Homocysteine in Healthy Men and Women. Journal of Nutrition, 133(12), 4135-4138. https://doi.org/10.1093/jn/133.12.4135