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The MTHFR Gene Mutation: What It Is + Why You Should Care

William Cole, IFMCP, DNM, D.C.
December 26, 2015
William Cole, IFMCP, DNM, D.C.
Functional Medicine Practitioner
By William Cole, IFMCP, DNM, D.C.
Functional Medicine Practitioner
Will Cole, IFMCP, DNM, D.C., is a leading functional medicine practitioner with a certification in natural medicine and a doctor of chiropractic degree.
Photo by Stocksy
December 26, 2015

Your body is brilliantly complex. It contains more than 60,000 miles of blood vessels and creates 25 million new cells every second.

And yet it's easy to take for granted the profound wonder of what our bodies do to sustain us without us willing it.

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Sadly, the health of our bodies is now being threatened by epidemic numbers of preventable chronic conditions. In fact, chronic diseases have surpassed infectious diseases as the top killer of humans. Modern culture, with all its advances in sanitation and technology, is also contributing to our undoing.

I have written in the past about how the unfortunate storm of modern environmental factors such as toxins, chronic stress, poor diet, and microbiome dysfunctions can trigger many of these health problems.

Plus, a study in the American Journal of Clinical Nutrition now suggests that the rapid changes in our environment over a relatively short period of time could be the main factor in chronic health problems. In other words, most of our genes were formed before the development of agriculture, around 10,000 years ago, and haven't had time to adjust. Our genes may be under attack from the world around us.

And one of the most common genetic predispositions that weaken our bodies to life's modern stressors might be methylation impairments.

What Is the MTHFR Mutation?

Methylation, a biochemical process, happens more than 1 billion times a second in your body to keep you alive and healthy.

In short, if methylation is not working well, a lot can go wrong with your health. Changes to these important genes make it difficult for your body to handle those environmental stressors I mentioned earlier.

There are many different methylation genes, but the most famous one is the MTHFR gene. Some estimate that as many as 40 percent of the world — including me — have a MTHFR mutation, although most don’t know it.

Research in this area is still emerging, and more needs to be done. But it's suggested that the more methylation impairments we might have, the bigger potential for health problems.

To learn more about methylation impairments, read "What You Need To Know About The Gene Mutation That Affects 40% Of The World." And if you already know you have one, here's what I personally do to help support mine:

How I Eat & Supplement for My Methylation Impairments

As a functional medicine practitioner, I wanted to take more time to work on supporting my own health. I started with a 60-day reset diet to deal with my food intolerances and then focused on my adrenal fatigue with a hormone-balancing protocol.

But while microbiome and hormone problems are reversible, MTHFR gene changes are not. That means supporting genetic weaknesses is not solved with 60 days of this or 90 days of that. These changes are lifelong.

If you have methylation mutations, you may want to seek the support of a qualified functional medicine practitioner. Since each methylation impairment responds to care differently, what works for you will be different, too.

But no matter who you are, there are still some general tools you can use to support healthy methylation pathways. Here's what I personally do:

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1. I take activated B vitamins.

Methylation runs primarily on B vitamins to work optimally. So general support of methylation impairments can be started by taking activated B vitamins, like B9 L-Methylfolate (L-5-MTHF) and B6 Pyridoxyl-5-Phosphate (P5P).

2. I eat at least three cups of leafy greens every day.

Folate, which is found in greens like kale, collards, chard, and spinach, is needed for methylation. So I make sure to fill up every day on lots of nutritious greens.

If you find you can't handle the roughage of this many greens, cooking can help mitigate any gastrointestinal upset.

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3. I eat at least three cups of sulfur-rich vegetables every day.

Full of nutrients, cabbage, broccoli, cauliflower, onions, garlic, mushrooms, and asparagus also support methylation.

Still, some people may not tolerate these foods in excess because they are high in FODMAPS, a common food intolerance.

4. I eat grass-fed liver about two times per week.

This isn't an option for vegetarians and vegans, obviously, but grass-fed organ meat, like liver, is the most bioavailable-rich source of B vitamins on the planet.

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5. I supplement to balance my glutamate and GABA levels.

Excess glutamate (your excitatory neurotransmitter) relative to GABA (your calming neurotransmitter) is common with methylation impairments. Because of this, glutamate imbalances are linked with chronic fatigue and fibromyalgia. If you feel nervous, anxious, fatigued, or unable to sleep, an imbalance of glutamate to GABA may be an issue for you.

To support the balance, I typically use blends of L-theanine, L-carnosine, resveratrol, pterostilbene and extracts of magnolia bark, chamomile jujube seed, lemon balm, nettle leaf, sweet orange peel, passion flower, and skullcap root. I recommend talking to your health professional about what supplements and dosages might be best for you.

6. I supplement to keep lithium balanced.

Lithium not only plays a role in mood, energy levels, and glutamate balance but also has been shown to be involved in B12 transport and in turn, methylation. Consider asking your doctor if supplementing with low-dose lithium orotate could help improve your mood, energy, and overall well-being.

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7. I supplement with vitamin B12.

Vitamin B12 is crucial for methylation and for overall health. The best sources are usually grass-fed meat and animal products, but supplementation may be needed for methylation impairments. It's important to talk to your doctor first, since everyone will tolerate the various types of B12 (like Adenosyl B12, Cyano B12, Hydroxycobalamin B12, Methyl B12) differently. Some forms can make you jittery or nervous, and taking too much could exacerbate symptoms.

The bottom line: Navigating MTHFR mutations and other methylation impairments can be overwhelming. Consider a free evaluation to see if functional medicine might be right for you.

Keep reading:

William Cole, IFMCP, DNM, D.C.
William Cole, IFMCP, DNM, D.C.

Will Cole, IFMCP, DNM, D.C., is a leading functional medicine expert who consults people around the globe, starting one of the first functional medicine telehealth centers in the world. Named one of the top 50 functional and integrative doctors in the nation, Dr. Will Cole provides a functional medicine approach for thyroid issues, autoimmune conditions, hormonal imbalances, digestive disorders, and brain problems. He is the host of the popular The Art Of Being Well podcast and the New York Times bestselling author of Intuitive Fasting, Ketotarian,The Inflammation Spectrum, and the brand new book Gut Feelings: Healing the Shame-Fueled Relationship Between What You Eat and How You Feel.

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