What is MTHFR???
You might be asking, what is MTFHR all about? Simply put, this particular gene variation can impact how well your body can metabolize folate and folic acid. Both of these are forms of Vitamin B9 which are required for numerous critical bodily functions.
MTHFR provides your body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase or «MTHFR» for short.
Methylenetetrahydrofolate reductase plays a central role in converting folate into the active form that is found circulating in your blood. This form of folate is then utilized in the process of lowering homocysteine levels in your body.
Why is this important?
Maintaining appropriate levels of homocysteine is important in the prevention of chronic diseases such as coronary artery disease (CAD), stroke, Alzheimer’s and autism. Mutations in the MTHFR gene can cause it to be less efficient in converting folate to its active form, which in turn may lead to elevated levels of homocysteine.
What is a MTHFR Mutation?
There are two main MTHFR genetic mutations that researchers focus on most often. These mutations are called «polymorphisms» and are referred to as C677T and A1298C. Mutations can occur on different locations of these genes and be inherited from only one or both parents. Having one mutated allele (a variant form of a given gene) is associated with increased risk of certain health conditions but having two increases the risk further.
For instance, C677T indicates that at position 677 within the MTHFR gene, a person can have either a C or a T allele. If a person inherits a T allele from one parent, their MTHFR enzyme will be about 35% less efficient than someone who inherited a C allele from both parents. A person who inherits T alleles from both parents will have an MTHFR enzyme that is about 70% less efficient.
How does this affect you?
There is still a lot to learn about what these types of mutations mean for people who carry them and go on to pass them along to their children. Just because someone inherits this mutation doesn’t mean they will experience any problems. To date, there have been several different health conditions attributed to MTHFR mutations. The science is evolving on which, if any, health conditions are caused by, or at least partially connected to, MTHFR gene mutations.
Things to consider
Taking a DNA test that reports on MTHFR can tell you if you have a mutation. It is important to note that your health is influenced by your genetics and also impacted by your lifestyle choices — what you eat, how much you exercise, your medications, your environment and so on.
In the United States, food made with grains such as cereals, pasta, bread and rice are enriched with folic acid, another form of vitamin B9, so it is no longer common to have a folate deficiency. Folate deficiency in pregnant women was found to be the cause of a group of birth defects known as neural tube defects.
Supplementation with folic acid or folate especially during the first three months of pregnancy is needed to reduce the risk of these birth defects.
If you are concerned about folate deficiency, high homocysteine levels or are planning on getting pregnant, there are certain actions you can take to help you stay healthy.
- Have a routine blood test to check your levels of B vitamins and homocysteine.
- Consider a supplementation plan that includes a bioavailable form of folate (I-methylfolate) if your tests indicate you are deficient in folate. These supplements have folate already in the activated form so MTHFR is not needed for your body to use it, bypassing any decreased efficiency caused by MTHFR mutations.
- Consume more natural folate, Vitamin B6 and B12. Having more folate in your diet is a preventative measure.
- Some of the best high-folate foods include:
- Beans & Lentils
- Leafy green vegetables like raw spinach
- Asparagus & Broccoli
Partnering with Vitagene ensures you can take advantage of ongoing MTHFR research which is continually surfacing new information. Vitagene’s new DNA based report updates can now tell you whether you carry the MTHFR mutation. At Vitagene, we leverage the latest scientific developments combined with your genetic makeup, lifestyle choices, medications and medical history to recommend actionable plans to meet your health goals.
These plans are updated in real-time as you modify your lifestyle profile, upload new medical information and as new clinical research becomes available. By providing easy, affordable access to genetic information and personalized guidance on how to use it, we help you make educated and proactive lifestyle choices leading to better health outcomes.
is a research associate at Vitagene who graduated from UC San Diego with a B.S. in Biology and B.A. in Psychology. For the past seven years she has been involved with companies that take a systems biology approach to integrating genetic, epidemiological and physiological scientific research into comprehensive views of pharmacology, health and wellness.
is a nutritionist and research associate at Vitagene. He has been working for companies that utilize scientific research, genetics and nutritional science to provide personalized recommendations. He has a B.S. in Clinical Nutrition from UC Davis.
- Moll, Stephan, and Elizabeth A. Varga. «Homocysteine and MTHFR mutations». Circulation 132.1 (2015): e6-e9.
- Klerk, Mariska, et al. «MTHFR 677C→ T polymorphism and risk of coronary heart disease: a meta-analysis». Jama288.16 (2002): 2023-2031.
- Clarke, Robert, et al. «Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias». PLoS medicine 9.2 (2012): e1001177.
- Gariglio, Luis, et al. «Comparison of homocysteinemia and MTHFR 677CT polymorphism with Framingham coronary heart risk score». Arch Cardiol Mex 84.2 (2014): 71-78.
- Leclerc, Daniel, Sahar Sibani, and Rima Rozen. «Molecular biology of methylenetetrahydrofolate reductase (MTHFR) and overview of mutations/polymorphisms» (2013).
- Peng, Qiliu, et al. «The MTHFR C677T polymorphism contributes to increased risk of Alzheimer’s disease: evidence based on 40 case-control studies». Neuroscience letters 586 (2015): 36-42.
- Hua, Ye, et al. «Association between the MTHFR gene and Alzheimer’s disease: a meta-analysis». International Journal of Neuroscience 121.8 (2011): 462-471.
- Pu, Danhua, Yiping Shen, and Jie Wu. «Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis». Autism Research 6.5 (2013): 384-392.
- Abhinand, P. A., et al. «Meta-analysis study to evaluate the association of MTHFR C677T polymorphism with risk of ischemic stroke». Bioinformation 13.6 (2017): 214.
- Office of Dietary Supplements — National Institutes of Health. Folate Dietary Supplement Fact Sheet.
Retrieved from https://ods.od.nih.gov/factsheets/Folate-HealthProfessional/