MTHFR And Your Health

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The Pure TheraPro Team

The Pure TheraPro Education Team is comprised of researchers from diverse backgrounds including nutrition, functional medicine, fitness, supplement formulation & food science. All articles have been reviewed for content, accuracy, and compliance by a holistic integrative nutritionist certified by an accredited institution.
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It can be hard enough to pitch a tent under normal conditions. Yes, some people can do it with ease. But what if one of the poles was missing? When the body tries to perform necessary chemical processes with missing or altered components, it can cause problems. As medical researchers work to better understand certain diseases and conditions, they have come to see a relationship of mutations in the MTHFR gene with many health problems.

MTHFR stands for methylenetetrahydrofolate reductase. It’s easier to pronounce when it’s broken down: methylene-tetra-hydro-folate reductase. And we notice it has something to do with folate.

The Folate Connection

Folate, one of the B vitamins, is water soluble and naturally occurring in lots of foods. It is available in synthetic form as the supplement known as folic acid. The terms folate and folic acid are often used interchangeably. In this blog post a distinction is made between synthetic folate, known as folic acid, and naturally occurring folate. Many foods are “fortified,” or “enriched” with the chemical form. All these forms are metabolized in the small intestine, but folic acid metabolizes differently than natural folate. More than 150 forms of folate are found in foods, some of which are:

  • Dark leafy greens
  • Lentils
  • Lima beans
  • Split peas
  • Asparagus
  • Brussels sprouts
  • Many other vegetable
  • Avocados
  • Eggs and poultry
  • Dairy
  • Meat
  • The list goes on...


The body cannot use folate directly, that is, in its natural state. It must be converted into methylfolate. This conversion process is carried out by directions from the MTHFR gene. To simplify it, I like to compare it to preparing dinner. Unless you’re a better cook than I am, we start with a recipe or cookbook (the instruction manual), the ingredients and necessary tools to get the job done. The MTHFR gene is the cookbook, various compounds are the ingredients and folates are one group of the tools. Folates are molecules that are essential for regulating the change of one group of methyl compounds to another (transmethylation). As clinical researchers are beginning to understand more about how our genes and the foods we eat affect and complement each other, they are more interested in the relationship of folates with the MTHFR gene.

MTHFR_cycleMTHFR Gene Mutations

Estimates of how many people are affected by MTHFR mutations range anywhere from 20% to at least 60% of the population. As additional data is gathered, the range of estimates will narrow and become more reliable. More than 400 types of mutations to the MTHFR gene have been identified. Other contributing biological factors have also been identified, but it is still unclear how those factors interact with a mutated MTHFR gene to cause the health problems.

The Known and the Unknown

  1. Why do some people have a mutated MTHFR that leads to disease, while others have the same mutation but no disease?
  2. What activates the gene?
  3. What is the relationship between the genetic mutation and the other factors that lead to the medical issue?
  4. What are the most effective treatments to combat effects of mutated MTHFR genes?

There is still a great deal to learn about the transmethylation cycle, but what is clear is that folate plays a critical role in forming neurotransmitters, blood cells and platelets, in synthesizing and repairing DNA, and much more. The MTHFR gene directs the production of an enzyme by the same name. The enzyme MTHFR is necessary for processing amino acids, which in turn make proteins and other compounds. This multi-step process begins with the gene, MTHFR. In other words, a faulty instruction manual (MTHFR gene) seems to be the key behind certain health issues.


Related Health Issues

The list of known related health issues is long and diverse. It includes:
  • Pulmonary embolisms (blood clots, fat globules, etc)
  • Addictions
  • Seizures
  • Miscarriages
  • Mental health issues (such as severe depression and schizophrenia)
  • Cancer
  • Autism
  • Spina bifida
  • Glaucoma
  • Migraines
  • Developmental delay
  • Fibromyalgia

Researchers are hopeful that current, ongoing studies will provide the answers. Based on what they already understand, most experts believe the most extreme consequences are rare. Of course, any degree of consequence is extreme when it comes home. If an activated MTHFR gene is mutated, it produces a MTHFR enzyme that is off, and so on. Then, what can someone do?


What You Can Do

  1. Get tested. A simple blood draw test is available for a relatively low cost at places such as a genetics laboratory at a college of medicine.
  2. Reduce stress.
  3. Eat a healthy, balanced diet. Include foods high in folates. Eliminate junk foods.
  4. Take good quality, responsibly sourced nutritional supplements (i.e., without chemicals).
  5. Avoid environmental toxins.
  6. Drink purified water. Tap water may contain impurities and chemicals (even arsenic and lead in some areas) that are known to be hazardous to health.
  7. Do what you can and don’t worry. (Refer to #2.)


The Rise of Nutrigenetics

There is growing interest among health professionals in how nutrition and genetics interact to affect health. Nutrigenetic researchers are studying the response of individual genetic differences to the foods we eat. In other words, how does what an individual eats affect how their particular genetic code responds. This means a nutritional program, or diet therapy, may be designed for an individual based on their genetic makeup and susceptibility to certain disease or conditions. Could this be the emerging new wave of healthcare? Talk with your health professional about any concerns you may have, and for more information.

Our Methyl B Complete is exceptional for those with defective MTHFR genes. 

Methyl b Complete

This comprehensive b complex provides Quatrefolic®, which is structurally analogous to the reduced and active form of folic acid. It completely bypasses the "damaged" MTHFR conversion step and delivers a "finished" folate the body can immediately use without any kind of metabolization. Methyl B Complete is manufactured in the USA in a GMP-certified facility, for guaranteed quality and potency.  



NIH, Office of Dietary Supplements. (2016, April). Folate: Dietary Supplement Fact Sheet. Retrieved from Fruits and Veggies—More Matters. Folate in Fruits and Vegetables. Health Aliciousness. (2016, November). Top 10 Foods Highest in Vitamin B9 (Folate). Retrieved from Dr. Edward Group. Global Healing Center. (2011, November). 15 Foods High in Folic Acid. Retrieved from Reinagel, M, MS, LDN. (2011, June). Folate vs. Folic Acid: What’s the Difference? Lynch, B., ND. Folate Metabolism and MTHFR: Introductory Overview of an Essential Gene Moyer, JD. (2011, September). B-Vitamins, Mood, and Methylation — It’s Complicated. Lynch, B., ND. (2016, December). Pure Water Supports MTHFR. Baucom Inst. (2014, August). A1298C Variant. Springer International Publishing AG. (2017). Genes and Nutrition. Journal no. 12263 Wikipedia. (2017, March). Nutrigenetics Quatrefolic. QUATREFOLIC® VS FOLIC ACID.