Why You Need to Know About MTFHR

By Dr Ernst
January 15, 2018

“MTFHR?” you ask. “What in creation is that?”

MTFHR is an acronym for an enzyme in your body called Methylenetetrahydrofolate reductase. This enzyme is perhaps one of the most important when it comes to your overall wellbeing, longevity, ability to detoxify, ability to lose weight, stabilize your iron (prevents anemia), ward off depression and anxiety as well as risks for cardiovascular disease, prevent infertility, osteoporosis, cancers and even migraine headaches. (That’s quite a lot for such a tiny enzyme!)

Research is now suggesting a high correlation between those conditions and a mutation present in the gene that produces this enzyme. If mutated, the enzyme cannot perform its normal function, which includes activating folic acid (by converting inactive B9 into the active methylfolate), converting homocysteine into methionine–something your body needs to control inflammation, regulate metabolism and muscle growth.

MTFHR is also responsible for the production of glutathione – perhaps the single most important antioxidant in your entire body. Without glutathione, your body cannot decrease oxidative stress, detoxify chemical, biological and heavy metal toxins, repair DNA, sustain cell membrane integrity, supply oxygen to mitochondria and prevent cell death.

Like most health issues, a defective MTFHR enzyme is often asymptotic, or the symptoms are noticed and a diagnosis is applied incorrectly – as the medical community is just now becoming aware of the vast number of conditions that are connected to this one enzyme. In fact, a recent publication at MTFHR.NET identified 64 known medical conditions caused by MTFHR mutation.

What Happens When MTFHR Is Defective?

If your MTFHR enzyme is defective, your body has impaired ability to break down and eliminate toxins in all forms:

  • Biotoxins: Toxins produced by living substances (mold, lyme, parasites, bacteria, viruses, etc).
  • Neurotoxins: Chemicals that affect the nerve system (medications, heavy metals, alcohol, solvents, food additives).
  • Chemical Toxins: Any chemical the EPA identifies as hazardous to health (cleaners, pesticides, acids, gasoline etc).

Accumulation of Folic Acid = Inflammation

When the MTFHR enzyme is defective, folic acid can’t be converted into the usable form, and thus the inactive form accumulates in the body, which can raise levels of homocysteine. Elevated homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which the body needs
to remove waste and which is a potent antioxidant.

In short, we are just learning the extent to which this can affect health, but there is strong evidence that because of the effect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibly contribute to or exacerbate other problems like autoimmune disease, mental issues and more.

Testing & Types of MTHFR Mutation

As this is a genetic test, a simple blood test can determine if you have any mutations in the gene responsible for the production of the MTFHR enzyme. Before you run to your doctor asking them to test your MTFHR gene, realize that most internists are not aware or acknowledge the significance of this mutation. Nor do you have to have an MD test you. Several at home test kits are available online – some as low as $150 (www.LivingGenes.com or www.MTFHRDocotrs.com)

There are many types of MTFHR mutations, however the two most significant occur are called C677T and A1298C mutations – simply to indicate the location of the genetic mutation and the change in DNA base pair mutation (C to T, A to C for example).

As your DNA is inherited from your mother and father, there following MTFHR variations also occur:

Homozygous: the same gene passed on from both parents–can occur if both pass on the 677 mutation, or the 1298 mutation. As both sets of the gene are mutated, these individuals are more susceptible to health complications (i.e., regardless of which gene makes the enzyme, it’s always defective).

Heterozygous: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene. As only one set of the gene is mutated, these individuals have 50% normal working enzyme and 50% defective enzyme. While still susceptible to health complications, the outcome is not as severe as homozygous mutations.

Compound Heterozygous: one parent passed on the 677 mutation and the other passed on the 1298 mutation. Though rare, the outcome is similar to that of the homozygous mutation.

Is a Positive Test a Death Sentence?

Thanks to the emerging field of EPIGENETICS, the answer is a resounding NO! Thankfully we now understand that our DNA isn’t our destiny. Even if you have a MTFHR homozygous mutation, there are quite a lot of actions you can take to limit and even diminish the negative health effects.

Focus on Gut Health: all absorption (good and bad) takes place within the intestines. Keeping your intestines balanced is important even if you do not have MTFHR deficiency. Load up on gut healing bone broths, fermented vegetables, probiotics on rotation and avoid all “gut killers:” Grains, Vegetable Oils, Processed Sugars and Antibiotics (prescribed and non-prescribed – ie those found in soaps, sanitizers, shampoos etc).

Adding Methylated Vitamins (MORS) and Avoiding Synthetic Folate (and all synthetic vitamins for that matter)

Sadly, when you say FOLIC ACID, most people think it’s exceptional for your health. If you have MTFHR, you should avoid synthetic folic acid like the plague. Instead you must consume in supplemental form the active methylated folate (often labeled L-MTFH or L-5-methyltetrahydrofolate). My favorite is MORS by Systemic Formulas.

Assisting Your Body Naturally

As those with defective MTFHR have difficulty detoxifying, anything that supports detoxification is helpful. This includes infrared sauna, dry skin brushing and or lymphatic rebounding, epsom and or hydrogen peroxide baths, bentonite or other clay/ mud baths, increased water consumption and therapies such as massage, acupuncture, chiropractic, etc.

Additional MTFHR Support

According to Dr. Ben Lynch, ND and MTFHR expert, dark leafy greens contain the methylated forms of folate that those with a genetic defect need.

Also, avoid methylfolate depleters, like:

  • Antacids
  • Alcohol
  • Mold Exposure

Add MTFHR Power Foods

  • Grass-fed beef
  • Broccoli, Spinach & Collard Greens
  • Eggs
  • Salmon & Sardines

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