The Impact of MTHFR Genetics on Methylation, Detoxification, and Overall Health

by Dr. Susan Tanner, MD

There has been heightened interest in the last few years regarding genetics and one’s genetic predisposition to certain acquired diseases and illnesses. Autoimmune conditions and environmentally-triggered illnesses seem to be of particular focus for genetic testing. In fact, for years, members of the Academy of Environmental Medicine have had as one of their statements “genetics loads the gun and environment pulls the trigger” to embody their take on the genetics-environment interplay. Genetics are predetermined for each person, but without an environmental or lifestyle trigger–be that mold, chemicals, stress, etc.–some genetic variants never get expressed or become problematic. Put simply, most diseases and illnesses do not occur without something (often that we can control) causing the body to become less resilient and more susceptible to that illness or disease. This should be empowering information because while we are made up of our genetics that we cannot control, our genetics do not seal our fate! We can alter health outcomes significantly with lifestyle and environmental changes that we CAN control.

In my practice, I am always glad to see more and more people interested in their genetic makeups to answer, at least in part, the question of why they become ill from certain things while others seemingly do not–mold is a wonderful example of this quandary.  Often there are many people living in a moldy home, but only one person is very sick. Even among family members, sometimes the genetics may vary slightly or at least the expression of a certain gene. While everyone else living in the home is able to detoxify the mold from their body, one person may genetically lack that same detoxification capability. Thus, mold toxins can build in their tissues making them very sick and debilitated. Everyone living in the home is breathing the same air, but only one person cannot handle the toxic burden. But I am getting ahead of myself!

Knowing our genetics can really help to fine-tune all aspects of our health–from which supplements to take, to which foods our bodies can utilize best, to what exercises can elicit the most bang for our buck. The reality is that there are many genes involved in health and illness when related to environmental toxins; it is hard to pin it down to just one.  However, one that is brought to the forefront of our practices, especially when dealing with mold and the concept of detoxification is that of MTHFR.  You may be wondering, “What do those letters even stand for?”  MTHFR is the acronym for methylenetetrahydrofolate reductase.  Clear as mud, right?

What is MTHFR?

What methylenetetrahydrofolate reductase actually describes is a biochemical process going on in the body constantly, called methylation.  The methylation cycle is one of the most important metabolic pathways happening in your body. When people refer to methylation they are actually referring to the act of a methyl group bonding to another molecule to produce a chain reaction. A methyl group is simply a molecule containing one carbon atom and three hydrogen atoms (CH3). Methyl groups are chemically inert, so adding them to different molecules in the body changes their function and ultimately gives them different jobs to perform.

The Methylation Cycle

The methylation cycle uses certain enzymes in your body to convert other molecules into active forms so your body can use them properly. When enzymes are not working properly, important processes in our cells and tissues cannot occur. The enzyme methylenetetrahydrofolate reductase, or MTHFR for short, converts the folic acid in foods you eat to the active form of folate by adding a methyl group to it. This active form of folate is what starts the methylation cycle. If you have a certain mutation on the MTHFR gene that produces this enzyme or if you have an overload of toxins in your body not allowing the methylation cycle to start–you can get in a sticky situation of your body’s natural functions being disrupted. Disruption can then lead to health symptoms, illness, and possibly disease. This may sound like a lot of biochemistry, but the big question is why is the methylation process so important?

Why is Methylation so Important?

Methylation does many things, including the following:

–  Promoting detoxification in the liver;

–  Producing glutathione, an extremely important antioxidant required for natural detoxification;

–  Maintaining DNA stability;

–  Balancing mood by producing neurotransmitters;

–  Controlling inflammation;

–  Balancing hormones.

Methylation and Detoxification

It is important for our body’s natural detoxification pathways to be working in order to protect us from illness and disease. Around 40% of the population has a mutation on their MTHFR gene and most are unaware of it causing them to wonder why they have trouble detoxing. Methylation is important in Phase II of the liver detoxification process–the phase when the liver helps to break down toxins for excretion so that they will not be recirculated into the body. When someone has certain MTHFR mutations, not only is liver detoxification hindered but the body’s natural production of glutathione is also insufficient. Glutathione is the body’s master antioxidant – the main job of this powerful antioxidant is to remove toxin build-up in your body. When both natural detoxification pathways are compromised, it is easy to see why this can become problematic for a person, especially for one who is living in today’s increasingly toxic world. Additionally, even if you don’t have an MTHFR gene mutation, your toxic burden, which is an accumulation of toxins in your body, can affect the methylation process. Therefore, no matter what your genetics, supporting these pathways is always important.

Symptoms of Poor Methylation

If your methylation process isn’t in good shape, you may be unable to detoxify mycotoxins (the toxic byproducts produced by some molds) from your body. Improper methylation is also linked to cardiovascular events and neural tube defects in fetuses. Some of the symptoms from toxicity in general and mycotoxins specifically that can occur in individuals who have a genetic methylation defect may include the following symptoms:

–  Chronic fatigue;

–  Persistent migraines;

–  Insomnia;

– Anxiety;

–  Achy joints;

–  Brain fog;

–  Memory loss;

–  Shortness of breath;

–  Upper respiratory tract symptoms.

Naturally Supporting Methylation in the Body

It is always important to manage and decrease your toxic load. A few simple and natural ways to support this cycle are the following:

–  Eating foods high in folate–examples include beans, peas, lentils, asparagus, eggs, leafy greens, beets, Brussels sprouts, citrus fruits, broccoli, nuts and seeds, avocado, and beef liver;

–  Supporting your body’s natural detoxification process through the use of saunas, IV glutathione, exercise, eating healthy foods, and drinking clean water;

–  Testing for and removing mold from your home if you have elevated levels–you breathe in roughly 2,904 gallons of air a day. You cannot outsmart that with supplements or medical interventions if the air you breathe is toxic to your health;

–  Avoiding toxins in your food, beauty products, cleaning supplies, and other consumer products whenever possible;

–  Managing your stress–a stressed body does not detoxify! Adopt practices like yoga, meditation, gentle exercise, talk therapy, whatever works for you to manage that stress;

–  Focusing on gut health–a healthy gut guards the body against all forms of disease;

–  Talking to your doctor about what supplements are best for you–over-supplementation or supplementing with things your body does not need or cannot properly utilize is as bad as being deficient. Work with your doctor to find which supplements your body needs to function optimally.

How Do You Test for MTHFR Mutations?

MTHFR mutations can be tested for by blood or saliva for genetic information. There are two genes in particular that are evaluated for MTHFR, and these may exist in a homozygous (meaning there are two copies of the gene) or heterozygous (only one copy) form.  As one gene is donated by each parent, this determines the number of copies of each gene. (Please note that I am presenting a tremendous over-simplification about genetics here.  This is truly a complex subject and the intent here is to give a broad overview.)

There are a few simple blood tests that offer a hint that there may be a genetic issue at hand with MTHFR.  One of these is a blood test for homocysteine.  Homocysteine is a pro-inflammatory amino acid derivative, and when elevated is a significant cardiac risk indicator.  The “antidote” if you will, to high homocysteine is methylfolate taken as a supplement.  Homocysteine should be a screening marker for anyone with concerns about heart health and is just as important as cholesterol when looking at heart risk.

Another marker is the size of the red blood cell, indicated on blood counts as MCV.  When this level starts exceeding 90, then Vitamin B12 deficiency may be evident.  B12 is intimately involved with folate in methylation processing.

Aside from hyperhomocysteinemia, C677T or A1298C MTHFR (the two genes most studied) mutations are associated with an increased risk of other conditions including cardiovascular and thromboembolic diseases such as strokes, blood clots, and heart attacks, ADHD in children, pregnancies with neural tube defects, depression, anxiety, diabetic neuropathy, glaucoma migraines, schizophrenia, and colorectal polyps. A recent updated meta-analysis in the journal Medicine found a significant association between the MTHFR C677T variant and lung cancer susceptibility in Chinese people. Keep in mind that the research around MTHFR is still evolving.

Final Thoughts on MTHFR

You may choose to do genetic testing for MTHFR defects, and if so, there are several labs available for this. However, if you find that you suffer from any of the above-mentioned symptoms or situations, you may want to proactively incorporate methylation supporting supplements into your daily regimen.  However, there is a word of caution here.  As I stated before, you can overdo it and push these pathways too hard.  More is NOT always better.  A simple multivitamin, such as Ortho Molecular Mitocore, (this supplement is available through my Wellevate link) is a good way to be preventive but I would suggest that you consult with your practitioner for further info before going into too many other supplements specific for methylation. Always remember, as I state in most of my articles, keeping your indoor environment clean of mold and mycotoxins is essential, regardless of genetic makeup, to maintaining your health.  The purpose of this article is to help clarify why avoiding environmental toxins is even more essential for some individuals.