What is MTHFR?

That question is almost impossible to answer in one blog post. I have had a few people ask me to break it down into terms a non-nerdy person can understand. I’m not even sure I even completely understand it yet. . .but I will give it my best shot.

“Normal” people are able to eat foods containing folic acid and other forms of folate as well as vitamin B12 as cyanocobalamin. Their body then takes those vitamins through a process that essentially has an end product of methylcobalamin and methylfolate (there is a longer name for the end product, but for the sake of simplicity, I will leave it at that). Our bodies need the “methyl” part of those end products for many, many different processes to function normally. It uses them to manufacture other enzymes and chemicals needed to have a normally functioning body and mind, including neurotransmitters (serotonin and dopamine), glutathione (necessary for your body to eliminate toxins and heavy metals) and other processes I don’t yet fully understand.

When a person has a mutation in the MTHFR gene, it’s like having a rusty wheel in the process. Depending on which mutation and how many copies, the function of the gene is impaired so it produces a smaller amount or a mutated type of the MTHFR enzyme (methylenetetrahydrofolate reductase-say that 10 times fast). MTHFR enzyme is necessary for the body to break down folate and B12 into that methyl form that is useful to the body. With MTHFR, the body can still convert a small amount of the dietary forms, but not enough for healthy function.  Essentially, many people with MTHFR mutations can have normal or even high amounts of B12 and folate in their bloodstream (measurable by lab test) but their body is still starving for the vitamin because it’s not in a usable form.

There are many conditions and symptoms that are being linked to MTHFR. They range from the symptoms of B12 and folate deficiency, heart disease and other conditions related to high levels of homocysteine. . . to psychiatric disorders and heavy metal poisoning, depending on the individual’s environment, diet and a plethora of other factors (other genetic mutations also play a part.)

If you see yourself in this list of conditions from MTHFR.net, ask your doctor about getting tested. A naturopathic or integrative physician is your best bet as mainstream medicine is still on the fence about the link between MTHFR and chronic illness, but those of us who have it have seen real life symptoms and real life improvements with the proper supplementation. The medical community is slowly becoming aware of its importance, but right now this knowledge is so new that even if you find a doctor who knows about it, you may still see differing opinions on how to treat it.  Depending on where you get your information, the prevalence of this mutation in the general population is anywhere from 30%-50%. That’s a lot of people!


Personally, I have suffered for years with several minor unexplained conditions that are likely linked with MTHFR. Anxiety, depression, peripheral neuropathy, IBS, GERD (vagus nerve dysfunction), migraines. . .just to name a few. Not to mention a history of dementia on one side of my family as far back as we can trace. But when you look at the diagram representation of the methylation process (above), it becomes obvious that if you’re a “defective methylator” your whole body is affected. I personally find the diagnosis freeing and plan to have my family tested in hopes of avoiding chronic health conditions in the future by getting the proper nutrition and supplement support. . .

This YouTube video series called Methylation Made Easy (Parts One, Two, Three & Four) has been the easiest-to-understand resource for me personally. If you’re a visual learner and you want to understand more about MTHFR, I highly recommend it.

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