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Posted on 04-10-2015

THE MTHFR GENE AND WHAT EVERY PERSON SHOULD KNOW AND DOUBLY SO IF YOU FOLLOW A "VEGETARIAN DIET" OR THINKING ABOUT GETTING PREGNANT! (Learn important preventative strategies for a host of "diseases" such as heart disease and cancer).

by Dr. Jon Repole, D.C., N.C., H.H.P., C.P.T.

My sister was born with a medical condition called Spina Bifida. It is a birth defect whereby a baby's developing spinal cord fails to develop properly. In mild cases it goes undetected and is not associated with any ill health effects. In the more severe cases, such as with my sister, it is responsible for a host of deleterious health consequences including lower extremity paralysis (confinement to a wheel chair) and bowel/bladder dysfunctions.

It is believed to be caused by:

Having a genetic predisposition that DANCES with the right environmental conditions.

So, what is the genetic predisposition? And what are these conditions?

A lot of research points to a mutation in a gene called MTHFR (which stands for methyltetrahydrofolate reductase) that dances alongside environmental conditions that exhibit deficiencies in a family of nutrients such as folate and B12. When these conditions are met a biochemical process called methylation is slowed down leading to a host of problems.

What is methylation?

It is simply a chemical process that is used in almost all cellular reactions. It is responsible for the health of:

  • DNA
  • Turning on and off genes
  • Immune system 
  • Cardiovascular system
  • Neurotransmitter production
  • Blood cell production
  • Energy production
  • Nervous System
  • Detoxification

Folate is one of the key nutrients is this methyl equation. The body either takes in activated folate from foliage (hence the name "folate") found in green leafy veggies OR it takes in an inactivated form such as folic acid.

The MTHFR gene is responsible for making an enzyme which is used in one of the last chemical steps that convert the inactive folate into its active form called methyl-folate. This entire process can be thought of as an imaginary "METHYL FACTORY WAREHOUSE" in the body. In this factory, the MTHFR gene along with many other employees (key nutrients such as B12, Folate, B6, Magnesium, Choline, Methionine, Glutathione) work diligently to bring you a very prized product -- usable methyl. So, the end result of a days labor is the availability of a chemical called methyl that can be used in the health of all the systems mentioned above.

OK, so tell me how this applies to me? And what is the significance?

This gene mutation oftentimes goes undetected and is associated with major "disease" processes such as:

  • Cardiovascular disease such as Myocardial Infarction (Heart Attack), Stroke, and Arteriosclerosis
  • Increased chemical sensitivities
  • Autism
  • Addictions
  • Cancers
  • Frequent miscarriages
  • Male & female infertility
  • Pulmonary embolism and other blood clots
  • Mental health disorders such as: Depression, Bipolar, Anxiety, Schizophrenia, etc.
  • Fibromyalgia and Chronic Fatigue Syndrome
  • Parkinson’s disease
  • Spina bifida
  • Alzheimer’s
  • Autoimme conditions such as Multiple Sclerosis


Knowing if we have the gene can help us with individualizing our preventative strategies for these "diseases." The MTHFR gene mutation is found in about 40-50% of the general population!

A very little primer on genetics...

We inherit pairs of chromosomes, one from each parent. On these chromosomes are genes which, in turn, are made up of DNA. If we inherit a chromosome from each parent that also means we inherit one gene from each parent, as well. 

If you inherit one mutated MTHFR gene then the factory to make the end product - methylation - is decreased.

  • If you have one copy of the mutated gene the factory goes on strike and is only about 60-80% efficient.
  • If you have two copies (from both parents), the factory to make methyl production is only about 30% efficient.

Now let's say that a person has either 1 or 2 of the gene mutations and compounds the issue with the following:

  • Not eating a significant amount of green leafy veggies. (They are not obtaining enough of the activated folate form)
  • Taking medications such as birth control pills, anti-depressants, antacids, steroids, and many more. (All of the medications deplete the employees -- b12, b6, etc. -- in the warehouse making it even less efficient.)
  • Heavy menstrual bleeding. (Loss of nutrients)
  • Poor diet. (Nutrient depletion)
  • Following a "vegan", vegetarian, etc. diet. (May have slightly decreased levels of B12, B6, etc. and need to be tested)
  • Increased exposure to chemical toxicity, non-organic foods, etc. (This put a greater demand on the need for methylation).

For example, the three hypothetical individuals listed below would have higher risk factors for cardiovascular disease, cancer, etc. than the average person due to dysfunctions in the "Methyl Factory Warehouse" -- and they would, unfortunately, never know!

  • Person 1: Has two copies of the gene, eats minimal green leafy veggies and is taking an antacid.
  • Person 2: Has one copy of the gene, eats a junk food vegetarian diet, taking no supplements, and is taking birth control pills.
  • Fetus: Mom has two copies of the gene, not taking supplements and eating a "normal" diet.

OK, so what do I do?


- Get tested to see if you have the gene.
- Obtain a nutrient profile to see your levels of various nutrients such as B12, Folate, etc.
- Order homocysteine levels in the blood (if the methyl machinery is not working, this nutrient will be elevated and is associated with increased cardiovascular disease).
- Eat your GREENS!
- Have a functional medicine doctor or someone versed in the above create a supplemental regimen for you. (If you have the gene mutation, you may need to take methyl-folate and other key nutrients. Remember, folic acid is NOT an activated form of folate and, therefore, is not helpful if you have the mutated gene variants).

If you have any questions, please feel free to contact me via email. We have been researching many labs across the country and have found the cheapest way to obtain the needed tests. Today we have the availability -- at a price point that now makes sense -- to test the mutations. This, unfortunately, was not so easy to do 5-10+ years ago. Find out your risk (especially if you are going to get pregnant) -- the solution is EASY!

Kalindi Narayan, M. D. said:

Excellent Information. Thank you, Kalindi

2015-04-20 15:32:15

Kimber Conley said:

Hello, I tested positive for MTHFR a few years back, after having two second term pregnancy losses. All I want is to find a doctor that is knowledgeable in MTHFR and is willing to help work with me on what I should be doing to attempt pregnancy one last time.

2017-03-14 14:42:18

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