The MTHFR Gene Mutation And How To Rewire Your Genetics

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Have you heard about the MTHFR gene mutation? If not, don’t worry…it’s relatively new, and it’s mostly just cutting edge functional medicine and anti-aging physicians who talk about it.

Researchers link it to an increased susceptibility to heart disease, colon cancer, stroke, recurrent miscarriage, Alzheimer’s disease, and depression [2,3]. 40% of people have it [4] and I’m one of them (some guys get all the luck!). This article will tell you how to find out if you have it too, and how you can protect your body and influence your genes to combat this common mutation.

What is the MTHFR gene, exactly?

The human body contains over 50 trillion cells, and each cell contains a complete set of instructions for making you. The instructions are encoded in your DNA. Short segments of DNA are called genes. Your DNA is the cookbook, your genes the recipes. Genes encode for specific proteins, and those proteins play a crucial role in the function of the body’s tissues and organs. Humans have about 20,000 genes. [4]

Among those 20,000 genes is the MTHFR gene. Most people have two copies of it. It provides instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form. This process is super important because methyl-folate plays a role in just about everything your body does.

Methyl-folate keeps your body running through methylation

Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems [5]. It’s involved in:

  • Repairing and regenerating your cells, tissues and DNA
  • Regulating gene expression and protein function
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory
  • Controlling homocysteine (an amino acid that can damage blood vessels)
  • Keeping inflammation in check
  • Assisting your liver in processing fats
  • Activating and regulating the immune system
  • Modifying toxins and heavy metals

Methylation is hugely important!

Those of us with the MTHFR mutation have a defective MTHFR enzyme. We produce 30 to 70% less methyl-folate than someone without the mutation does [6].

That can be bad news. With lower methylation, your performance can suffer, and you have a higher risk of developing many different diseases. But don’t fret: there are ways to increase your methylation and keep yourself running at your best. It’s a simple problem to hack, if you know about it.

Having the MTHFR mutation is an opportunity to eliminate tipping point factors that lead to disease, maximize your methylation, and optimize your diet and nutrition to change how your cells function. [5] Your genes are one of many factors influencing your performance. You determine your future.

Hacking this MTHFR Gene

Download and listen to the Bulletproof Radio interview with Dr. Ben Lynch, one of the foremost MTHFR experts, to get his help and advice. You can also check out his blog to find a lot of research on how to hack your genetics if you have the MTHFR gene mutation. 

Here are my top recommendations for hacking the MTHFR gene mutation:

Genetic testing

The first step is to get tested to see if you have this marker and which variations affect you.

Check out these great resources:

Dr. Amy Yasko’s Nutrigenomic Testing: This site will test about 30 methylation single nucleotide polymorphisms (SNPs), or mutations. It’s pricey but very complete – about $500 when I did it.

23andMe is a more affordable saliva test that gives you raw data (with five fewer SNPs tested than in Dr. Yasko’s test) for only $99.  This site allows you to download your genetic data, which can then be used to determine which mutations you have.

LabCorp and Quest Diagnostics also offer genetic testing with a prescription. You remember prescriptions? They’re like expensive permission slips you have to get signed by a doctor before you can get access to your own data.

The labs will provide you with what is called your “raw data,” a number/letter listing of your genes. There are programs (listed below) that can help you compare your results to a typical human genome and identify where you differ. The differences you find are genetic mutations.

Once you have your raw data, upload it here for methylation interpretation:

GeneticGenie

LiveWello

MTHFR Support

You can do this testing on your own for basically the cost of a $99 23andme test. It’s way cool to install the SNPtips Firefox plugin, which highlights the specific SNPs you have whenever they appear on a website you visit, so you don’t have to remember your genes or constantly cross reference.

 

The gold standard is to work with an experienced MTHFR practitioner to determine an effective course of action for your unique genetic makeup. Dr. Lynch’s site MTHFR has an extensive list of trained MTHFR and methylation docs. If you’re “stuck” on a health issue, these are the people who know how to hack it.

Top Ten Bulletproof Hacks for MTHFR Mutation Carriers

Having a MTHFR mutation doesn’t guarantee that you will have any of the negative symptoms or develop the conditions I mentioned previously. MTHFR has more than fifty variants, so it depends on what variants you have, and whether the mutations affect one or both of your MTHFR genes. It’s in our interests as a society to build a world that assumes people have these variants, because people without MTHFR changes do fine on MTHFR-safe foods, but not the other way around.

Having said that – all people with the MTHFR mutation will benefit from these Bulletproof hacks:

  1. Dr. Ben Lynch says, “Repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that includes treating candida because of the toxins it releases, inhibiting proper methylation.
  2. Check your supplements. If any of them has folic acid added, stop taking the supplement or switch brands. Your body won’t process the folic acid well, and it can build up inside you.
  3. Avoid processed foods that have synthetic folic acid added to them.
  4. Get your folate from natural sources, including cooked, dark leafy greens like spinach, kale, bok choy, and Swiss chard. The Bulletproof Diet Roadmap is a valuable reference for the best greens. You should aim for at least 1 cup or more of dark greens every day.
  5. Get your homocysteine levels measured. If your homocysteine levels are high, you may have a methylation issue or a B12/folate deficiency. If so, supplement with methylcobalamin (Vit B12), Vitamin B2, Vitamin B6 and 5-MTHF.
  6. Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs.
  7. Remove mercury amalgams from a trained biological dentist.  Avoid aluminum exposure in antiperspirants and cookware. Help remove toxins using liposomal glutathione.
  8. Supplement with essential nutrients like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics.  If you are double homozygous for MTHFR mutations (both your MTHFR genes are mutated), you should advance carefully with methyl-B12 and methyl folate supplementation. Some patients do not tolerate high doses.  Avoid taking high doses of niacin (vitamin B3), which can hinder methylation.
  9. Make time for gentle detox regimens throughout the week.  That can include infrared sauna sessions, Epsom salt baths, and regular exercise or sweating. My favorite detoxers are (you guessed it!) Bulletproof Upgraded Coconut Charcoal and Glutathione Force.
  10. Avoid exposure to toxins like chemical house cleaners etc. They can inhibit methylation, among other things.

Making Bulletproof choices in diet, supplementation, and lifestyle provides a kick-ass antidote to the MTHFR mutation!

If you have the MTHFR gene defect, please share your experiences to help readers know what has been the most useful information for you.

Click to read the complete list of references.

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By Dave Asprey

  • John Fawkes

    23 and Me is amazing- well worth the money. What do you think about glutamine to repair the intestines? Helpful or not?

    • Liisa Lugus

      not helpful if your GABA/glutamate is out of balance which happens if your GAD enzyme function in the pancreas is impaired. glutamine tends to convert to glutamate in these ppl, creating an excitotoxic effect as GABA is the lacking inhibitory neurotransmitter. i told my ND i had this issue + he’s put me on 4 x DGL/day instead.

      • Elinor Silverstein

        that’s interesting, he put you on DGL instead of glutamine to repair your intestinal lining? Don’t they act very differently? I love that you wrote about the fact that if a person has high levels of glutamate that they should not take glutamine, this is very important info.

        • Liisa Lugus

          yes, they do act differently but glutamine was no option for me. i also took it for 3 years a decade ago, but had no measurable difference in my gut.

      • Margaret Anonymous

        Whats DGL?

  • Elizabeth N. Baylor

    I’d like to know what you think of Ox Bile as a supplement ? I agree 23andMe is a really good one.
    Also, I think you have Livewello spelled wrong. I do like that Application, mostly because it is the only one I still use all the time ever since I paid for it. It is packed with information and useful health reports.

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  • Jared Heldt

    When I developed CFS in 2009, getting a 23andme test (in 2012) and finding out which methylation (as well as detoxification) snps I had, was so helpful. Amy Yasko has a lot of awesome information on this on her website (and via 2 free ebooks) as well, it requires quite a bit though, supplements, as well as some medications as well as diet can help tremendously. The digestive system is also very important and a bit tricky to address as well. You really need to find a good doctor, preferably functional medicine based or naturopath that knows what they are doing.

    http://www.jaredheldt.com

  • Randi

    Looks like the 23andMe test kit is $199, not $99. And I don’t see in the list of reports about anything re: MTHFR…

    • Your raw data comes with all 23andMe packages. It also tests many MTHFR SNP’s. 23andMe is what I personally used to get my own data and results.

    • Elizabeth N. Baylor

      Yes 23andMe test is still $99. You get your results in raw data and then you upload your file to a an application like livewello which will give you reports for hundreds of thousands of SNPs. I have results for all my MTHFR SNPs but I’m finding out that there are lots more Genes that are also important so I go back to my livewello account to get them. I’ve gotten reports for an unlimited amount of Genes using their Application. I’ve also recently signed up for their weekly health reports service which is quite impressive.

      • vicki

        23andme is now $199.

    • Liisa Lugus

      yes, it does.

    • Olivia Gonzalezdepetrinidimonf

      MTHFR is big time on 23 and Me. They do test those 2 genes and there is a very active forum on the subject. I have the 2 copies; started on a methylated B complex and feel much better.

      • Jose Ney Morales

        Can you please share the name of the forum? Thanks

  • Ann

    Fruits and vegetables help this quite nicely. Meat doesn’t heal.

    • bouncedancer

      Oh quality meats heal all right. They are very nutrient-dense, as opposed to veggies. I’m not saying don’t eat veggies — greens for example are high in calcium, more than milk. But pound for pound meats are way more nutrient-dense, thus you don’t need large amounts. A small amount of quality animal protein with most meals AND lots of produce is the perfect baseline diet. Very good for stabilizing blood sugar and sustaining energy, and low in allergenic foods like grains, dairy and nuts.

      • TheBride

        Yes, this is true. Even Dr. Ben Lynch says openly that a vegetarian diet felt good shortly but made him crash and burn. We get Methionine from meats which helps enormously, though we must also eat natural greens (for natural folate). Grass-fed is highly recommended.

        • nuncha

          check your blood type and food test for sensitivities I am B so I can have milk and other things but no chicken wheat etc this was accomplished with skin testing at the EHC-Dallas

  • Anton Kolev

    Hi, what is the right way to evaluate 5-MTHF deficiency? In my local laboratory there’re two tests available – folate in blood serum and RBC Folate. Does RBC Folate accurately reflect 5-MTHF deficiency?

    • Liisa Lugus

      RBC testing is usually superior at giving a more accurate reflection of any nutrient. but, it doesn’t tell you how well your body uses that nutrient. there’s no perfect way, but it’s better than nothing.

      • Anton Kolev

        Ok, but does RBC Folate value represent the 5-MTHF availability or just “folic acid” availability?

  • PghPammy

    Upload your 23andme results to one of several sites. Some are free (so start there) and some are up to $50.

    GeneticGenie.org (free)
    KnowYourGenetics.com (free) (Yasko’s site)
    Interpretome http://interpretome.com
    NutraHacker.com (Free option with survey, Carrier Status $23, Nutritional $37)
    HealthCoach7.com ($10)
    MTHFRSupport.com ($30)
    Livewello.com ($20)
    http://snpedia.com/index.php/Promethease ($2)
    Promethease.com ($5)
    http://snpedia.com/index.php/Promethease $9 for PC version, (or free option)

    Research sites (sites that you can use to learn more about the significance of the findings on your variance report):
    http://www.heartfixer.com/AMRI-Nutrigenomics.htm http://www.genecards.org/
    http://snpedia.com/index.php/SNPedia
    http://omim.org/
    http://www.ncbi.nlm.nih.gov/projects/SNP/
    http://mthfr.net/

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    • SL

      this is awesome, thank you!

  • Sandy Davis

    ASEA revs up your body’s production of GLUTATHIONE by 500%

    • Liisa Lugus

      … and can make you very ill if methylation is not supported first.

    • OzMoses

      Theoretical.

  • Sarah Philley

    This is the type of “rubber meets the road”info that I truly appreciate.Thank you,Joanne.

  • Some people under-methylate and some people over-methylate. You have to look at all the other detox SNPs, Not just MTHFR. (MOA/COMT etc.) Distinction makes a HUGE difference!

    • Gina Gravel

      Hi Helen, so does the 23 and me give these results or am I better of with other test, I am on tight budget..

  • Nonna Eges

    I had my “personal nutri-genetic analysis” done in 2005 by Genalex, Seattle. Results show one MTHFR gene as slow. (24 genes tested, 10 variations to varing degrees). Of a 30 min. phone discussion – I only retained 10%. And the written suggestions were not completely credible as they seemed too steeped in mainstream. My question: 15 years later would this report still hold valuable and worthwile information to have reassessed without doing gene testing again?. I am 67.

    • Susanne Bennett

      Yes, 15 years later, you can still use the same genetic variant information…genes never change, only the expression. There’s so much new science in this area though, on how to circumvent the defects with Nutrigenomics and Epigenetic strategies. Totally worth it to dig deeper! Dr. Susanne

  • OzMoses

    Good information, although the second sentence is false. The MTHFR mutation has been around forever. Our awareness of it is new.

  • csp375

    In #8 you say, “if you are double homozygous.” Is that even possible? I know that it’s theoretically possible, but I’ve never heard anyone who is homozygous for both 677 and 1298. Did you mean compound heterozygous?

    • melanie

      csp375, I have the double mutation both the 677 and 1298

  • Clair Ramsdale

    I’m a bit confused about the warning against niacin. Dr Ben Lynch promotes it’s use, and it is added to his Electrolyte Formula which I’ve just ordered.

  • ararespecies

    Just found out that I have this. My Dr put me on Methyl B-12 and cerefolin.

  • momenoughtonot

    Great information! I’ve been adversely affected by fluoroquinolone antibiotics. It’s suspected that MTHFR expressions may be responsible, poor methylation allowing the toxins to stay too long and interfere with cellular replication and also damage mitochondria. Thanks for listing some of the things we can do to help ourselves because most of the medical professionals are at a loss since the risk of damage by fluoroquinolones has been minimized by the pharmaceutical companies and FDA. Thankfully, it is getting some attention now.

  • lala360

    C677T over here! I found out I am a MTHFR after three miscarriages. Folate supplementation, baby aspirin and voila…baby!
    Just got my Detox and Repair kit in the mail today, before I knew you were a MTHFR too! Feel like I need to get back on track and as I approach 48 everything is starting to ache and creak.

    • Gabriel_14

      Congrats for the baby. Why the aspirin?

      • lala360

        Blood thinning. To prevent clotting- a risk for some with the MTHFR mutation.

    • Sandyy

      Congrats on baby. Wondering what version of c6777 you have. I’m hetero.

      • lala360

        c677t hetero

  • NoX1De

    23andMe is no longer only $99, from what I understand it’s been $199 since they had to take down the service and deal with the FDA’s BS to be “approved” by them…meh… unless of course you have a discount code to make it only $99?

  • Bev

    Also on warfarin. My doc said to just be consistent with eating the greens. If I like to eat them a lot, then always eat a lot. Then meds get adjusted for that level. Just don’t go back and forth eating a lot some days and not on other days.

  • lala360

    c677t hetero as well.

  • lala360

    unfortunately they gave me Folgard, which is synthetic i think. This was years ago….now I take a daily Bcomplex that is bio available and not synthetic. Knowing what I know now, I would not have taken the prescribed Folgard and I would have found a separate B complex that was bio available.

  • Bama girl

    Yes. Request a copy of your lab report. My daugher was diagnosed by her obgyn while pregnant with heterozygous MTHFR. He tested because her 14 yr old brother is on Warfarin and will be for life due to major DVT (this is tall/thin). He also has congenital incomplete inferior vena cava. Since either one or both parents pass this along, I was tested and was told I was negative, so requested to read my labs. I was positve for heterozygous. The normal primary physicians just read off what the lab says and the lab said that no clinical manifestations are present with heterozygous. NOT TRUE. Same thing happened with my son. So all three of us have heterozygous MTHFR and have some pretty serious health issues that just happen to be the clinical manifestions of MTHFR that our doctor’s were told we wouldn’t happen. Hmmm…See, if you are taking man-made folic acid, it binds on your cells receptor sites and takes up the spaces that real, natural folate would normally bind to. But your body can’t process the fake folic-acid and so it builds up kind of like a toxin and causes elevated homocystiene levels in your blood, which cause cardiovascular health issues, clotting, chronic diseases, autoimmune, fibromyalgia (gasp!), allergies such as gluten, celiac, etc. What is completely WRONG is that the government hijacked our food source and adds a synthetic chemical to it because they think it will help babies spine development. But. a side effect of MTHFR and folic acid exposure IS miscarriage! They have no business messing with our food supply and now need to backtrack it. So the run down for myself and two kids is this: Me,41,nurse: Fibromyalgia, cardiac and intestinal problems with leaky gut/celiac.
    Son, 14, now 15: Massive Deep Vein thrombosis, Incomplete Inferior Vena Cava, Celiac.
    Daughter, 22: Difficult pregnancy, unable to take prenatals, Major pre-eclampsia resulting in preterm birth. Infant had Aortic stenosis and mitral valve stenosis. Daughter just diagnosed with spongy kidneys, calcification and a heart issue waiting on an ultrasound, possible metabolic acidosis caused by parathyroid that is waiting on lab results currently.
    Bottom line: Folic acid is not interchangable with Folate and education needs to change on this.

  • Bama girl

    You may eat greens. You can eat any greens. What you have to do with warfarin is be sure that the amount of greens you eat each week remains consistent. So if you normally eat 2 salads a week, eat 2 salads every week. Otherwise your PT/INR levels will go up and your dose may need to be changed. We know that isn’t fun. Its all about consistency.

  • Miranda Dreyer

    My son and I are compound homozygous 577t/1298c. Just beginning my research. I’ve been following you for a long time Dave. So glad you have some good suggestions here. I don’t know if it’s worth it to get the homocsysteine levels. I think it’s a safe bet that we’re poor methylaters and deficient in B vitamins. Waithing for my Spectracell results. My cells died before the mironutrient tests could be completed. Not a good sign. I heard it could be due to high estrogen/low testoserone as well. I have to get a re-draw.

  • Kelly G

    Just for the record… The 23andme test in Canada is $250, not $99…

  • bouncedancer

    Not quite. Meats are very rich in B vitamins and minerals, for example. The panda, which only lives on bamboo leaves, has very little energy for movement. Horses and cattle derive protein from hay, which we are unable to do.

  • tomballard

    Good article covering the important issue of MTHFR, which is much ignored. My comment, based on 33 years of experience, is that the weakness of the resources you listed is that they don’t give a comprehensive view of a person’s genetics. MTHFR is only one of several thousand gene variations and they’re all important. I encourage readers to look at http://www.naturalDNASolutions for a comprehensive genetic report that includes treatment options for correcting gene variations.

  • Rachel Ramey

    That depends on which nutrients you mean.

  • nuncha

    good info however everyone is different for food allergies and sensitivities like coconut etc and yeast but this is very good info thank you and God Bless hope you are doing much better

  • nuncha

    not if you have food sensitivities not everyone can eat all fruits and vegis

  • nuncha

    get over not fairy plenty of us like cancer survivors etc have to grow up and get wise stop complaining and do something about it

  • Sarah Confet

    Good to know. I am sure there are many people who are faced with the same problems I recently had. I couldn’t find Maybe you would be interested in an online service with a ton of Form templates (tax, real estate, legal, business, insurance forms, etc..) I used it to fill out http://goo.gl/06Fj7c

  • Shelli Marsh

    Thank you for opening up your life to us Dave. Your empathy and knowledge are a priceless gift to the world. Thank you!

  • Wade

    Wow, that gene is one bad MTHFR!

  • MaryKay Simoni

    Wow, you are rocking it. Good on9for you and good questions!

  • Shera Raisen

    Make sure the B12 is in the Methylated form as well. You can follow your levels on and off the supplements and decide with your doctor what you need to stay on. Best of luck