What the Heck is MTHFR?

Posted by Nutritionist's Choice on February 9, 2015 in News Press Release

Why would anyone be interested in something with a name like: Methyltetrahydrofolate reductase and why on earth is someone who does not have a PhD in genetics writing an article about it?

Before you dismiss the topic, let me explain why you might want to read on and why as a holistic, nutritionally-oriented Registered Nurse I’m tackling this topic. First of all, if you or someone you love has a history of recurrent miscarriages, autism, migraines, a tendency to form blood clots or they’ve been diagnosed with early onset heart disease, having a genetic mutation called MTHFR defect or deficiency may be a relevant piece of their medical puzzle. An even more important reason to read on is- once identified, specific supplements & dietary changes can be helpful.

What is it? MTHFR is a gene with a few functions: First- it instructs the body to make an enzyme that takes synthetic folic acid (which since 1998 has been added to breads, flours & prenatal vitamins) and converts it to the active form called 5-MTHF. This “active” or “usable” form is what protects against conditions like neural tube defects such as spinabifida during pregnancy. 1 When one has a defective MTHFR gene it simply means they cannot properly convert synthetic folic acid to the form the body needs to provide this type of protection.

Additionally, folic acid that these individuals (mostly women) are unable to metabolize, can build up in their body and cause unanticipated problems including triggering the growth of pre-cancerous cells and exacerbate other MTHFR related symptoms such as migraines and blood clots.

Although many people have a MTHFR defect (may be up to 40-50% of the population), not all defects will manifest into symptoms. As a matter of fact, most people who have the mutation remain unaffected and do not experience adverse symptoms. This is because mutations are not in and of themselves dangerous. However, if someone is very sensitive to the mutation and has one of the conditions previously mentioned, identifying and addressing this issue could be an important factor in preventing illnesses, reversing symptoms and or optimizing their health.

Want to know how having a MTHFR defect could lead to blood clots? The reason a MTHFR defect is linked to clotting disorders is because folate is key to breaking down or recycling an amino acid called homocysteine. (Hold on…let me explain!) When active folate is not readily available or its reserves are low – homocysteine can become elevated and high levels of this particular amino acid can damage the lining of the arteries and lead to blood clots, heart disease & stroke. The good news is, if you have elevated levels of homocysteine, a nutritionally-oriented health care provider will recommend you take the active forms of folate (5-MTHF), B12 and B6 and along with dietary changes these can lower the homocysteine levels and therefore lessen the likelihood of clots developing.

MTHFR mutation and toxins: The MTHFR genes is associated with something called the methylation pathway. When this biological pathway is working correctly the body is able to get rid of toxins such as heavy metals and other waste material more efficiently. But when this pathway is not working correctly due to a MTHFR defect (as was shown in one study by Dr. Jill James, PhD that identified children with autism to have impaired methylation pathways) then their ability to detoxify is greatly reduced.

How to find out if you have a MTHFR defect: Recently I spoke with several health professionals including MDs who were unaware of the MTHFR defect and its relevance to health. However, those in the health profession who are aware, typically recommend testing (saliva or blood) if there is a family history of infertility, heart disease, strokes, miscarriages, birth defects, blood clots etc. Generally, this condition is more common in women than men. Finding a knowledgeable practitioner to discuss this information with, who can order reliable tests as well as recommend the most effective treatments are important because there are other variables such as B12 levels that need to be considered.

Solutions: Most experts who work with people who have the MTHFR mutation recommend consuming a diet rich in natural folate including: dark leafy greens, eggs, spinach, seeds & nuts, avocado, Brussel sprouts, asparagus, broccoli, beans, peas and lentils as well as avoiding gluten or in many cases avoiding all grains – as almost all breads, cereals, pastas, grain based products are fortified with synthetic Folic acid. Clean eating -meaning mostly organic is also recommended because when MTHFR defect is present, the liver’s ability to detoxify (get rid of pesticides and other toxins) is usually impaired. Avoiding GMOs are also important since all genetically engineered food is sprayed with Roundup which contains the chemical Glyphosate. According to Stephanie Seneff, PhD a top researcher at MIT, Glyphosate is a patented antimicrobial agent that destroys the good bacteria in the gut whose job it is to produce folate. (4)

Switching to a vitamin supplement with the active form of folate (5 MTHF or L-Methylfolate) instead of the synthetic form of folic acid is also recommended.

Summary: Back in 1991 when 33 centers in 7 countries were involved in a study that claimed Folic acid supplementation would decrease the incidences of neural tube defects and subsequently in 1998 when the law was passed to fortify grains with synthetic folic acid, I’m sure those involved in the study and passing the law had the best of intentions. However, those decisions were made prior to the widespread use of glyphosate which destroys the bacteria in the gut that produces folate and it was before we understood the MTHFR gene mutation. But now we know – and as a health care practitioner who searches for underlying causes of illness as opposed to one who masks symptoms, I highly recommend (if one has any of the previously discussed symptoms) finding out if a MTHFR mutation is a contributing factor and if so, making the diet and supplement adjustments to improve their health.

Maureen McDonnell has been a holistic, nutritionally-oriented RN for 37 years. She is the health editor of WNC Woman Magazine, the former national coordinator of the Defeat Autism Now! Conferences and the co-founder of Saving Our Kids, Healing Our Planet (SOKHOP.com). Maureen is also the co-owner of Nutritionistschoice.com – a multi vitamin that contains the active forms of folate and B12. Maureen lectures widely on the role the environment and nutrition play in women and children’s health. She lives in the mountains of western North Carolina, has 8 grandkids and is an Executive Area Manager with Arbonne, International. She can be reached at MauraHealth@aol.com


1. Greene ND, Copp AJ. Development of the vertebrate central nervous system: formation of the neural tube. Prenatal Diag 2009; 29: 303-311. 2. Is Folic Acid Poison to Pregnant Women? http://www.thedailybeast.com/articles/2015/05/03/is-folic-acid-poison-to-pregnant-women.html

3. James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, Neubrander JA. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr 2004;80(6):1611-7.

4. websitehttps://www.facebook.com/westonaprice/posts/10153502854035916?comment_id=10153506051070916 video of MTHFR defect http://dietvsdisease.org/mthfr-mutation-symptoms-and-diet/

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