Being told that you have an MTHFR gene mutation can be a scary thing. It is now well established that MTHFR mutations have potentially numerous negative health implications in epigenetics. The variant that is most problematic is the C677T variant. This variant produces a thermolabile (unstable in heat) enzyme with reduced activity (a much less efficient and effective enzyme.) The degree of enzyme thermolability is much more exaggerated when a person has two abnormal alleles as opposed to one abnormal allele.
However, other areas of science are growing and showing us that we can control our own health. Two of these areas of study that empower us to take back our health are nutrigenomics and epigenetics.
Nutrigenomics is the study of how nutrition effects the expression of genes. What scientists have learned is that good nutrition gives the cells in your body all of the building blocks of life needed to carry out any of the potential chemical reactions your body needs to perform. This includes the turning on and off of genes. The study of the process of turning on and off genes (altering the expression of health or disease) is epigenetics. The “environment” dictates this process of alteration and accommodation. Depending on the environment of a cell, the genes that are used as blueprints to build the cells will alter their expression to accommodate the environment. The term environment includes the chemical environment (nutrition), emotional (including the thoughts that you think) and physical environments (your home, area of the world you live in, etc.) Methylation initiates and sustains genetic changes. If you cannot methylate (put a methyl group on the desired molecule) genes that favor optimal health, the default of your inherited “genetics” that cause health problems and disease will eventually kick in. If you happen to have genetics that could potentially express an MTHFR mutation, being mindful about the conditions of your cells is advised.
One of the most important elements to consider gaining control of things that influence the cell is avoiding processed foods (that are fortified with vitamins mandated by the government).
Supplements that do not consist of the “activated” form of the vitamin (specifically folate.) In order to avoid blocking the absorption of folate from natural foods, like healthy green vegetables, especially if you are homozygous (have two copies of the C677T mutation), you must stay away from folic acid (the form found in most vitamin supplements and that fortifies processed foods.) With a difficulty methylating folate, ingesting folic acid causes a back up of folic acid on the folate receptors and in the blood stream. When folic acid binds to the receptor site, it will sit on the receptor and block the absorption of natural, activated folate from food. In other words, if you have an MTHFR mutation and you eat food fortified with folic acid and/or take a vitamin with folic acid in it, the receptors become filled with a substance that it cannot process. (It’s sort of like imagining this “hole” where a substance sits to be taken into the cell and instead of something the cell can take in the hole becomes filled with cement.) Then, when you go to eat your healthy food like wonderful broccoli, the folate has no place to bind, and thus it cannot be absorbed. If you measure the folate level with a blood test in this situation, you will see a falsely elevated folate level due to the folic acid sitting on the receptor site. The folic acid is in essence “stuck” there. In reality, there is no active folate metabolism going on. This is a very misleading and potentially dangerous situation. There are many potential negative health implications here. One example is, if someone is deficient in B12, than a build up of folic acid can lead to cognitive impairment and anemia. Another example would be an uninformed health care provider may tell a person they are ingesting too much folic acid, when they are actually deficient.
Multiple studies have also shown that things like being in nature, not being over scheduled, staying away from chronic stress in work and in your personal life, having supportive and loving people in your life, living in accordance with your core values, getting enough sleep and exercise, laughing, enjoying life and having a purpose all support the expression of healthful epigenetics. Remember to only take supplements with vitamins that are in their activated form. Otherwise, like with folate, you are at risk for not being able to metabolize the supplement. Regarding nutrition, eat more whole foods, organic when at all possible, grass fed and grass finished animals, avoid all processed foods and cook with only natural sugars, and drink filtered water. Toxins also interfere with the methylation process.
To simplify this concept, eating healthfully (including taking the appropriate supplements), making sure you are living in a way that resonates with your belief system and focusing on finding joy and laughter in your life and even choosing to live in an environment that pleases you will keep the issue of MTHFR gene mutation risks in check.
To order a home testing kit for MTHFR mutations click HERE. Supplements for MTHFR mutations.
6 thoughts on “Epigenetics, MTHFR and Nutrigenomics”
I have the MTHFR C677T gene mutation with 2 mutations. I take L-Methylfolate 7.5 mg. How do I know what is the right strength for me? What else can I do?
I read that due to the gene, the body has a problem processing folate and it stacks up. “With difficulty methylating folate, ingesting folic acid causes a back up of folic acid on the folate receptors and in the blood stream.”
Would this be solved by taking methylfolate?
Yes, folic acid is not the active form and must be converted by the body into the active form methylfolate. People with the c667t polymorphism have a limited capacity to convert it. Even worse most food that is enriched has folic acid which actually is taken up by the body but then can’t be utilized, but blocks up the receptors, so when the right stuff is available you still cannot use it. That is why we need to avoid processed food.
I’m still unsure of the effect that an MTHFR mutation would have on our epigenome. Not being able to methylate will interfere with turning genes on and off, so a certain gene that is causes negative health issues may not be turned off due to poor methylation but is there also a paradox where poor methylators will also miss out on bad genes being turned on as well? In other words might it also be a good thing as well as bad?
You are correct. All genetic differences have potential positive and negative expressions. A great example of this is the SLC6A4 gene. Having shortened alleles on this gene has multiple proven positive expressions.
Nicely written, thank you Pamela