Monthly Archives: August 2013

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, 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.

Supplements, supplements EVERYWHERE

After reading, and reading, and reading, and reading and. . .well, you get the picture, I have settled on the initial protocol for my healing process. I am still nursing my 13 month old and so I need to be careful about detox (also with 3 kids to care for, becoming bedridden is not really an option if I can help it.) So I choose to start slowly. Dr. Ben Lynch recommends several things, but in order to cushion the blow a bit, he recommends starting with a foursome of supplements before even beginning the supplementation for the “methyl” forms of b-vitamins my body needs.

So this week, I started a new probiotic, krill oil, turmeric extract and vitamin E. The first night I took everything at once (except the probiotic I took earlier in the day) and it didn’t go so well. Made my stomach hurt a lot. The second day, I spread out the supplements over the course of the day, taking the probiotic and one krill oil capsule in the morning and then taking the other krill oil, turmeric, vitamin E and vitamin D with lunch. My stomach definitely did better, but I had some minor body aches the whole afternoon. Not sure if it was related or not. I’ve now been following that same protocol for 4 whole days and I’m feeling pretty good. I’m planning to start taking one Thorne Methylguard Plus capsule on Monday. A little nervous but excited to take this step toward healing my body.