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What You Need To Know About The Gene Mutation That Affects 40% Of The World

William Cole, IFMCP, DNM, D.C.
September 22, 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 Getty Images
September 22, 2015

Your body is made up of trillions of cells, each containing your genes — the specific instructions that make you who you are. Genes are sections of DNA, your body's master manual. The latest estimate is that there are around 20,000 genes in the human genome.

And one of those is called the MTHFR gene.

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What in the world is a MTHFR?

No, it's not short for an expletive. The MTHFR gene provides instructions for methylenetetrahydrofolate reductase, the enzyme used to convert folic acid (vitamin B9) into folate’s active form, methyl-folate (5MTHF).

Activated methyl-folate plays a key role in a biochemical process called methylation. Methylation is the powerhouse detoxification, production, and DNA protection system that almost every cell of your body depends on.

Methylation 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.

MTHFR gene mutations don't send all the instruction to make that important enzyme. Some research estimates that those of us with MTHFR changes make up to 70 percent less methyl-folate!

There can be one mutation (heterozygous) or two mutations (homozygous). The more mutations you have, the more problems your body will have methylating. As a result, some research has shown an association between MTHFR mutations and many health problems, including, among others:

What should I do?

Some estimate that as many as 40 percent of people have a MTHFR mutation — and most don't know it. I just so happen to be one of the four in ten people who have this genetic change. If you're concerned you are too, here are some steps you can take:

1. Consider getting tested with these lab tests:

  • DNA Methylation Pathway Profile: This test looks at around 30 methylation SNPs (single nucleotide polymorphisms). By looking for DNA mutations that govern methylation, it gives us a personalized guide to what your unique genetic weaknesses and imbalances are so that they can be specifically addressed.
  • Homocysteine: Most of the medical literature correlating health problems with methylation impairments is centered around high inflammatory homocysteine, which needs to be recycled down by methylation.
  • Microbiome Labs: Underlying gut problems such as bacterial imbalances and candida overgrowth can exacerbate methylation problems.
  • Urine Amino Acid Labs: This lab assesses for several biomarkers such as glutamate and ammonia, which can be high with certain methylation mutations.
  • Hair Metal Testing: We use HMT to assess lithium levels. Lithium plays a vital role in our mood, as well as B12 transport.
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2. Avoid synthetic folic acid.

Steering clear of foods and supplements with added folic acid is important for anyone with MTHFR mutations, since it could be toxic. Be sure to read labels on anything you eat or take.

3. Take activated B vitamins.

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).

4. Eat green, leafy vegetables and organ meat.

Greens like spinach, okra, and turnip greens have many health benefits, including their folate content. And organ meats like chicken liver or grass-fed beef liver have the highest levels of bio-available B vitamins.

5. Calm inflammation and support detoxification.

Taking natural medicines such as curcumin, resveratrol, phosphatidylserine, super oxide dismutase, n-acetyl cysteine, and alpha lipoic acid can help promote healthy detox pathways, dampen inflammation, and promote antioxidant functions in the body.

6. Avoid B vitamin-depleting medications.

Birth control pills can block folate function, and antacids can decrease B12 absorption. Talk with your doctor about what is right for you.

7. Find the right B12 for you.

Depending on your specific MTHFR polymorphisms, certain types of B12 may be better tolerated by you. Working with a qualified practitioner can help determine if methyl B12, hydroxycobalamin B12, adenosynl B12, or cyano B12 is best for you.

8. Manage stress.

Studies have shown that stress can alter the methylation of DNA, which in turn alters the activity of certain genes. Mindfulness meditation, yoga, and tai chi are all effective ways to buffer the stress in your life.

9. Avoid toxins.

People with MTHFR changes have a harder time detoxing. What we eat, put on our skin, and breathe in is vitally important to address. Read 11 Tips To Remove Toxins From Your Life & Revamp Your Health for more information on how to live as nontoxically as possible.

10. Consider working with a functional medicine practitioner.

Since everyone is different, there's no "one size fits all" with MTHFR mutations. Healing is a journey and there are no quick fixes. Consider a free functional medicine webcam or phone evaluation to talk about your specific health concerns.

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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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