MTHFR & Methylation

Q. What the heck is MTHRF? I keep hearing that word and don't know what it is!

A. No, it's not short for an expletive. MTHFR is a gene that provides the body with a blueprint for making a specific enzyme called methylenetetrahydrofolate reductase (MTHFR). MTHFR takes folate (vitamin B9) and converts it into methyl-folate. Activated methyl-folate plays a key role in the biochemical processes of methylation. Methylation happens in your body a billion times a second and helps optimize a vast number of functions in your body, including DNA production, metabolism of hormones, and proper detoxification. For example, if serotonin is not properly methylated, it will become inactive, leading to depression. DNA methylation is an example of one of the many mechanisms of epigenetics. Epigenetics refers to inheritable changes in your DNA that don’t change the actual DNA sequence. That means these changes are potentially reversible. Put simply; methylation is the process that allows some internal little light switches to turn on and off, helping your body to function efficiently. Genetic mutations are not the only reason why someone might over or under methylate, but they are a contributor. You can also carry an MTHFR variant and still have good methylation.

A genetic defect of the MTHFR gene can result in a malfunctioning MTHFR enzyme, affecting methylation. It can lower your ability to make the mother lode antioxidant glutathione, which can mean you won't break down toxins or heavy metals as well. A defective enzyme also doesn't break down folate vitamins properly, which can cause high homocysteine, which can increase your risk of coronary heart disease and increase your risk for dementia.

More than likely, unless you have problems or have testing done, you'll never become aware of your MTHFR mutation status. The Human Genome Project discovered that the MTHFR gene was defective in huge numbers, possibly 60% of the population. Typically, doctors don't test for MTHFR mutations unless you have high homocysteine levels, an amino acid. (The MTHFR enzyme works to break it down, so low MTHFR function would increase homocysteine levels.)

MTHFR variants are so common that the CDC discourages use of the word “mutation” when referring to MTHFR because the CDC believes gene mutations should describe changes to genes that are “much less common.” A single nucleotide polymorphism or “SNP” is a small change to a gene that alters function.

None of this information is to scare you. Remember that MTHFR variants don't directly make you unwell. But they may cause an exaggerated response to poor diet or lifestyle choices that others can "get away with."

Consuming more folate in your diet may aid with methylation. Some of the best whole-food sources of folate include dark leafy greens, avocado, and lentils. Most traditional supplements contain folate as folic acid. But if you have a gene variation, your ability to convert folic acid into L-methylfolate is compromised—making it harder to reap the intended benefits of those supplements. Luckily, it's possible to take folate supplements as L-methylfolate. By using the form that's already biologically active, you can bypass the need for enzyme conversions. In turn, this can help you achieve ideal folate concentrations (and avoid a buildup of unmetabolized folic acid) if your body is unable to convert folic acid. Even those with MTHFR variants can still metabolize some folic acid, which is why the CDC still recommends that pregnant mothers take folic acid, even in the presence of MTHFR SNPs.

If you've been tested and know you have mutations confer with your medical professional for doses based on your methylation activity and context because everyone's biochemistry differs. Additional supplements that help support this genetic variant include magnesium, vitamin D, and vitamin B6.