What is MTHFR and why do you need to know about it? - PCOS Wellness
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What is MTHFR and why do you need to know about it?


You may (or may not!) have seen a mouthful of an acronym floating around more recently: MTHFR. This acronym stands for an even larger mouthful of a name of a specific gene in your DNA: 5,10-methylenetetrahydrofolate reductase.  Say that five times fast! Or even, you know, one time, slowly.

Anyway, everybody has the MTHFR gene but a percentage of people have mutations, or variants, of the gene. In other words, they can’t process folate (Vitamin B-9) sufficiently to allow it to be used in all the ways the body needs it. The precise prevalence of the mutations varies by ethnicity, but a large population study found that approximately 8% of its sample had what’s called the T/T mutation. Others estimate as many as 40% of the population has a mutation; the truth probably lies somewhere in between. Certainly, it is much higher in people who have depression and this mutation has been found to contribute to the risk of developing depression, anxiety, bipolar disorder, and even schizophrenia.

The reasons for this are complex, but have to do with the way that mutations in the MTHFR gene impair the production of neurotransmitters (the messengers that send information throughout our brains and bodies) such as serotonin and noradrenalin that are crucial for regulation of our moods. In addition, this mutation can lead to low folate levels in our bloodstream as well as high levels of a chemical called homocysteine, which can contribute to increased risk of cardiovascular disease and cancer. Folate, by the way, is found naturally in foods. Folic acid is the synthetic form of folate, which is found in supplements and used to “fortify” foods. They are often used interchangeably, but they are different.

The reason this is important is that many people who unknowingly carry this common gene mutation may develop depression that is particularly resistant to treatment with traditional therapies, such as antidepressant medication. Just to be clear, the added risk that this gene mutation carries is relatively low, so no need to panic, but if you struggle with depression, wouldn’t you want to explore every possible avenue for treatment?

Fortunately, you have options. If you suffer from depression or anxiety, and particularly if the standard antidepressant or antianxiety medications have not seemed to work well for you, talk to your doctor. You want to ask about blood tests for plasma homocysteine and folic acid, as well as levels of vitamins B12 and B6. If your folic acid levels are low and your homocysteine levels are high, this could very well be contributing to your depression and may represent a MTHFR gene mutation. There is also a direct test for this gene variant (called the MTHFR C677T mutation), but it is often reserved only for those patients with severe cardiovascular problems. But hey, it doesn’t hurt to ask! More and more psychiatrists are becoming aware of the potential value of testing for the MTHFR mutation, so again, it really doesn’t hurt to ask.

So what do you do if your homocysteine levels are high, and/or your folic acid levels are low? Fortunately, you can buy over the counter supplements for folic acid, and you will also want to take B12 supplements as well in order to prevent becoming deficient. The only problem is that if you do have the MTHFR mutation, your body will be unable to convert what you eat so that it helps regulate your moods. In this case, you can ask for a prescription called Deplin, which is a medical food. Deplin (also called L-methylfolate, or 5-MTHF), is a “bioavailable” version of folic acid that your body can more easily use. It is not an antidepressant, but it may enhance the effect of antidepressant medications. In addition, Deplin is much more concentrated, such that you would need to take approximately seven to nine folic acid tablets daily to get the same dose. Once again, talk to your doctor, as high levels of folic acid supplementation could possibly lead to adverse drug interactions!

Finally, there is another way to increase your folate intake without needing prescriptions or fancy tests. Although much of our food source is nutritionally depleted, try increasing your intake of these foods that are high in vitamin B12, which helps your body utilize folate:

  • Dark, leafy greens (broccoli, collard greens, spinach, kale, bok choy, Swiss chard)
  • Eggs (with the yolk)
  • Salmon
  • Sardines
  • Red meat (grass fed beef)
  • Fruits

Even if you do not carry the MTHFR gene mutation, you might still want to consider supplementing your diet with folic acid and B12, as many doctors are now recommending these supplements to patients with depression in addition to traditional antidepressant medications and psychotherapy. Be aware that you probably can’t eat enough of these foods to equal a dose of Deplin, so if you’ve tried supplementing and aren’t feeling the benefits, revisit the issue of an MTHFR test or Deplin trial with one of your doctors. Science for the win!


“All you need to know about MTHFR genes/polymorphisms (C677T, Rs1801133).” Accessed June 23, 2017. https://selfhacked.com/blog/need-know-mthfr-genespolymorphisms-c677t-rs1801133/

“Test ID: MTHFR.” Mayo Clinic. Accessed June 23, 2017. http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648

Bjelland, I., Tell, G. S., Vollset, S. E., Refsum, H., & Ueland, P. M. (2003). Folate, Vitamin B12, Homocysteine, and the MTHFR 677C→T Polymorphism in Anxiety and Depression. Archives of General Psychiatry, 60(6), 618. http://doi.org/10.1001/archpsyc.60.6.618

Coppen, A. (2005). Treatment of depression: time to consider folic acid and vitamin B12. Journal of Psychopharmacology, 19(1), 59–65. http://doi.org/10.1177/0269881105048899

Fava, M., & Mischoulon, D. (2009). Folate in depression: Efficacy, safety, differences in formulations, and clinical issues. Journal of Clinical Psychiatry, 70(SUPPL. 5), 12–17. http://doi.org/10.4088/JCP.8157su1c.03

Gilbody, S., Lewis, S., & Lightfoot, T. (2007). Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: A HuGE review. American Journal of Epidemiology, 165(1), 1–13. http://doi.org/10.1093/aje/kwj347

Tarbet, M., York, J., & Liday, C. (2008). L-Methylfolate (Deplin??): A medical food for depression? Evidence-Based Practice, 11(7), 9–10. https://mospace.umsystem.edu/xmlui/bitstream/handle/10355/7342/LMethylfolateDeplin.pdf?sequence=1&isAllowed=y

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