Can a homozygous MTHFR gene mutation can be managed by diet alone?

Question: Can anyone speak definitively on whether a homozygous MTHFR gene mutation can be managed by diet alone, diet + juicing greens, diet + greens powder? Does this mutation in its homozygous form require the fancy supplement? In other words, can it be managed with nature?

The story in my head is that this mutation is teaching us to become obligate foliage eaters again, encouraging us to bring the green back to our planet (therefore oxygen), and take it easy on the critters. I can’t help but think cosmically about these gene morphology changes. I’d just love it if I could create a wellness plan that fits into my ideologic little fairy tale world, but only if effective.

Answer:  No. MTHFR homozygous mutations cannot be managed by diet alone.

Most foods contain folinic acid while the supplement ideally used for MTHFR is methylated folate as 5-MTHF.

“As complex as this vitamin is in its structure, it is equally as complicated in its interaction with the human body. For example, most foods do not contain folic acid in the exact form described above, and enzymes inside the intestine have to chemically alter food forms of folate in order for this vitamin to be absorbed. Even when the body is operating at full efficiency, only about 50% of ingested food folate can be absorbed.”[1]

Even Women’s Health.gov agrees:
“Can I get enough folic acid through food alone?

The body does not use the natural form of folic acid (folate) as easily as the manmade form. We cannot be sure that eating foods that contain folate would have the same benefits as consuming folic acid. Also, even if you eat a healthy, well-balanced diet, you might not get all the nutrients you need every day from food alone. In the United States, most women who eat foods enriched with folic acid are still not getting all that they need. That’s why it’s important to take a vitamin with folic acid every day.” [2]

Food typically does not have the methylated folate.

Those with hetero and homozygous MTHFR do have some enzymatic function left which is great; however, the amount of greens one must eat would likely be a lot – and that is difficult for a patient on planet Earth.

In a perfect world with a perfect patient – possibly yes – but given the fast-paced stressful and environmentally toxic planet we live on – no.

Be an interesting study.

One must also look at homozygous mutations from a methylation problem as well which leads to increased toxicity.

This requires detoxification protocols – sauna, peat baths, epsom salt baths, coffee enemas, athletics (sweating) and nutrients -

I regret to say also that all the prescription forms of active folate contain a ton of garbage.

I agree I am quite strict on purity given my passion for environmental medicine – but I am also of the camp of why do pills have to contain ingredients which pose absolutely no benefit to the patient and may even cause harm?

On MTHFR.net, I have an article that has a table with all the ingredients of the most popular forms of prescription meds for MTHFR.

I do recommend the use of the Methylation Profile by Doctor’s Data as it measures s-adenosylhomocysteine vs homocysteine. S-adenosylhomocysteine is a more sensitive marker than homocysteine which may explain why some cardiovascular studies say that lowering homocysteine has no benefit.

My point is this – and my soap box is as well -

If we have the tools to reduce miscarriages, autism, bipolar, cardiovascular issues and cancer – then – as naturopathic physicians – we need to use them – and we do which is awesome.

MTHFR is yet another tool.

I know some of you think I’m over doing it here but I am hearing horrific MTHFR stories every day and most of my day. They pour in. 4 miscarriages in a row, depressed entire life and without work, 4 year old son having a stroke, autistic child, severely chemically sensitive – and most of these patients hear is: “you are heterozygous MTHFR – there is no issue.”

Toxic planet.

I am also frustrated by the fact that the paternal genetics are not evaluated as often as they should be during prenatal screening – if some docs are doing that – my hat is off and I am greatly thankful.

If we step up to the plate and bat .500 here, we can inform the public about MTHFR, how to handle it and empower them with information so they can control their genetic expression.

It is not about fear – it is about empowerment.

So – in short ;) – I think with the perfect patient in a perfect environment – perhaps homozygous MTHFR may be controlled by diet. Given the massive use of antacids, stress, toxins, chemicals and depleted soils – I don’t think we can in the general population.

Best
Dr Ben

References:
[1] World’s Healthiest Foods: Folate
[2] Women’s Health: Folic Acid 

, ,

18 Responses to “Can a homozygous MTHFR gene mutation can be managed by diet alone?”

  1. Liv September 29, 2011 at 4:32 pm # Reply

    I know I’m asking a lot of questions. You mentioned autism as being avoidable if the mutation is treated. Can you elaborate on this? Do you mean if the pregnant woman takes for folic acid (the proper form), etc during pregnancy, the child will not be at risk for autism? Or if the child takes the proper supplements, they will not develop autism? Or do you mean that somebody with autism can “fix” it with supplements?

  2. Carrie September 30, 2011 at 12:57 pm # Reply

    Hello Dr. Ben,

    I am writing to you as a person homozygous for the MTFHR C677T polymorphism, but also as a college anatomy/physiology/biochemistry professor who is interested in the specific mechanisms by which this mutation affects other processes.

    Would you be able to tell me what, specifically, the serum folate test is measuring? I have been unable to find this information anywhere.

    The [very] simplified folate pathway is:

    dietary folate –> (MTHFR) –> 5-MTHF

    If the folate test measures “folate,” I would think that an MTHFR-deficient person might have high serum folate, due to a blockade at the MTHFR step.
    If the folate test measures 5-MTHF, I would think that an MTHFR-deficient person might have low serum 5-MTHF, due to a blockade at the MTHFR step.

    In reading the literature from various labs, including Quest and LabCorp, I have not been able to find which form of folate the test measures. Do you know the answer to this?

    Thank you.

    • Dr Ben September 30, 2011 at 8:37 pm # Reply

      Carrie –

      You are exactly correct.

      Labs are required to use the exact terminology of what they are testing for.

      Serum folic acid = folic acid which is also the same as folate.

      A lab is working on a profile right now which will measure both serum folate and serum 5-MTHF. I cannot specify who but I can tell you I just got off the phone with them ;)
      The test should be available in a few months time.

      If someone sees a high serum folate, then they are not methylating it. This means they are not able to utilize folic acid until it is converted to 5-MTHF.

      High folic acid levels are a risk for cancer. Low folic acid levels are a risk for cancer.

      They must be optimized.

      • Carrie October 2, 2011 at 12:13 am # Reply

        Excellent.

        MTHFR is difficult because there is so little information available. The very few MTHFR doctors I’ve found online indicate that people with MTHFR polymorphisms show low serum folate. This did not make sense nor correlate with my lab results; I like your explanation better. ;-)

        Please keep us updated on when the 5-MTHF test becomes available!

        • Dr Ben October 2, 2011 at 5:32 am # Reply

          Hi Carrie –

          MTHFR polymorphisms can show low folate or elevated folate – it depends on the individual.

          Some MTHFR polymorphisms are so severe that they do not process folate well at all; while other MTHFR polymorphisms only partially destroy the methylation of folic acid.

          The 5-MTHF lab test will be excellent – especially as it is combined with standard serum folic acid.

          Doctors need to keep an open mind and look at the biochemistry.

          Best
          Dr Ben

      • Carlos February 21, 2012 at 8:04 pm # Reply

        Dr Ben,

        Is this test available yet? I am heterozygous for A1298C and have elevated folate levels. I would love to be able to test whether I have any methylation problems, at least converting folate to methylfolate.

        Thanks!

        Carlos

        • Dr Ben February 23, 2012 at 8:33 pm # Reply

          Carlos –

          As a carrier for the heterozygous A1298C, you are able to convert folate into methylfolate just fine.

          If you have elevated folate levels, then perhaps you are low in methylcobalamin, supplementing with too much of it, or eating foods that are enriched with folic acid.

          • Carlos February 24, 2012 at 1:20 am #

            Thank you, Dr. Ben!

            Do you think the heterozygous A1298C mutation has any chance of causing any kind of mild BH4 deficiency? I ordered the Neopterin/Biopterin profile from HealthEGoods just to be on the safe side.

            I am indeed taking quite a bit of methylcobalamin together with just 400ucg of methylfolate. So I went ahead and also ordered the Methylation profile to see if I am overdoing it or not.

            Thanks!

            Carlos

          • Dr Ben February 24, 2012 at 5:55 am #

            Carlos –

            I do think the heterozygous A1298C MTHFR mutation may play a role in the reduction of the BH4 pathway – how much – not sure.

            There are other mutations that also contribute to lowering BH4 – not to mention inflammation, infections, heavy metals or ammonia.

            Good idea to check on your levels – cannot hurt. Price is reasonable. Once they are in, I’ll send them over with some notes.

  3. Maggie November 2, 2011 at 6:33 pm # Reply

    Dr. Ben,

    With either heterozygous or homozygous C677T I totally agree, diet alone is not going to cut it, but I have to disagree about the utility of diet alone for MTHFR management with regard to A1298C mutations.

    My husband’s grandmother is now known (post-mortum) to have been homozygous for A1298C, she died at 105.5 years old and was quite active, mentally alert and in good physical condition until she had a stroke at 105 (six months later she died). Flip side of that is that her husband was homozygous for C677T and died of a massive heart attack when he was 58 years old. How do we know he was homozygous? Well, it’s a good guess when we consider that all three of their sons are compound herterozygous with A1298C + C677T; statistically strange if they’re father was just homozygous.

    My grand-mother-inlaw never knew, nor did we, until she was dead and we’d used samples preserved from her participation in centenarian studies to confirm what was suspected. She never took supplements, nor did she ever have any problems with the genetics that we can tell – what she did do, her whole life, was consume an insane level of vegetables and she loved her meat. When we look at her dietary habits, her shunning of nutrient poor starches in favor of nutrient rich vegetables and roots, along with B12 rich meat and fish, she ate her way to health in spite of her genetics and lived for a very, very long time.

    • Dr Ben November 3, 2011 at 7:37 am # Reply

      Maggie -

      Great comment. Thank you.

      I want to debate a little if I may ;)

      Your husband’s grandmother lived in an era which was less toxic and hectic in some ways than our current environment.

      Soils are depleted now of nutrients and instead are chock full of pesticides, herbicides, ammonia, and GMO seeds. Then add on processing, transport, preservatives and refining.
      Then add on pasteurization.

      Our food is dead and void of nutrients for the most part.

      Now I agree if you grow your own food in nutrient rich soils which you make yourself from compost and worm bins (I do).

      Buying organic foods are also critical as they are researched to contain more nutrients than industrialized farm foods.

      I am all in favor of Mr Hippocrates where he said, “Let food be they medicine and medicine by thy food.” Or something like that..

      If we lead our lives eating healthfully, limiting toxic exposures and stress, we reduce the need significantly to have to supplement.

      Your husband’s grandmother certainly sounds like she led a fantastic and healthy life.

      Unfortunately, many of us are not as fortunate as your husband’s grandmother and need to supplement.

      Every two years, I take my entire family (my wife and three boys) to the remote country of Russia for the entire summer and live in a 100 yr old very rustic cabin.

      There we grow our own food, have no plumbing, no showers, an old fashioned well, outhouse and bathe in the river. We wash our clothes by hand and all the dishes out by the well and canal. Here, we can lead a life without supplementation I believe.

      Back in the States, in Seattle, it is more difficult.

      So – in short – I fully agree with you and support it. I only am saddened to say it is not possible for the majority of people as our mindset is stuck on packaged foods, quick meals, taste and easy to prepare. Add to this the fact that we are so busy texting, cell phoning, commuting to and from work and stressed – most of us need to supplement.

      I do not own a cell phone, work from home and enjoy as much as I can in order to reduce stress. I still supplement a few times a week.

      Best,
      Dr Ben

  4. Rebecca July 23, 2012 at 11:33 am # Reply

    My 5 year old daughter has just tested Homozygous to MTHFR A1298C mutation (which means I will at least be heterozygous to this mutation – my doctor advised). Her homocysteine level is normal. As my doctor is just discovering more about this topic, I would like to know where we should go from here? What should I put her on or should I alter her diet to dairy free or wheat free or is this just for the C677T mutation? What are the possible effects this A1298C mutation might cause for my daughter?
    Also I suffer from hives a lot and no doctors have been able to identify a cause – could having a defective methylation process be a factor for me?
    I just don’t know much about this at all, any advice would be greatly appreciated.
    Thank you from Australia
    Rebecca

  5. Emily July 26, 2012 at 4:22 pm # Reply

    Hi Dr. Lynch,

    I recently found out after a blood work up, that I am homozygous for the MTHFR mutation. I do not know for certain which type ie. C677T or A1298C. I just know that I am homozygous not heterozygous, as the result read “This patient is homozygous for MTHFR mutation (T/T). Does this mean they type is C677T?

    At any rate, my dr. blew it off and said that it had nothing to do with my chronic inexplicable fatigue and instead told me that my testosterone levels were extremely low (I am a 33 yr. old female) and that I needed “sotopelle therapy” a new Hormone Replacement Therapy to increase my energy levels. By the way, all my other bloodwork came back normal (ie. CBC and liver panels, etc.). Long story short I had the useless and expensive procedure done and felt NO BETTER.

    After trying everything under the sun to get to the root of my chronic fatigue, I finally read my blood work report and did everything I could to research this MTHFR mutation. I read that increasing folic acid intake may help with my symptoms due to the fact that I may be b vitamin deficient. I also read that Folgard was a good option, although I cannot find it at the drugstores. Perhaps I need a perscription or can purchase it online?

    At any rate, I started increasing my folic acid intake to around 1200 mcgs per day and one vit. B6 per day. I will be honest, I have felt like a new person lately. Seriously, it is like I have been suffering my whole life with NO energy, struggling through each day and a very rapid heart rate (was once hospitalized with ventricular tachycardia), etc and I finally have the missing piece. Is this possible that this has been the cause of my symptoms my whole life? I feel suddenly like oxygen is going to my brain easier. I mean to tell you, I was beyond exhausted constantly and it is as if the folic acid increase is helping me. Am I right to be taking it? What should I or should I not be taking? Is fatigue a symptom of this mutation or high homocysteine levels? I can’t seem to find one doctor who knows anything about this mutation or if I should even be treated.

    Sorry to go on and on, but I am so interested in learning more about this issue that no one seems to know anything about. I honestly cannot believe the lack of knowledge in the medical industry. It seems the only way to get answers on your health is to do your own research.

    Thank you very much in advance!

    Emily

    • Rebecca July 27, 2012 at 12:08 pm # Reply

      Hi Emily
      As you can see from my previous post, my daughter has also tested homozygous to A1298C MTHFR gene (which means I am at lease hetrozygous and so is my husband – we are currently waiting for our results).
      I am not sure which country you are in – we are in Australia. My doctor has been studying this gene testing for quite a few months now and has been fantastic in her information. She has put me on “Activated B Complex” which is a vitamin supplement containing the correct doseage of folinic acid (as well as other vitamins to support the enzyme process) I went to see my doctor about 3 months ago to go back onto anti-depressants and she suggested we do the gene testing then she told me to try the Activated B Complex for a few months before I made the decision to go back to anti-depressants. The result has been amazing! I no longer need anti-depressants and am feeling fantastic. Here in Australia you will need a prescription from your doctor to get the Activated B Complex – and it’s only available at leading health food stores, or they can order it in for you.
      I would suggest you find out which gene you test homozygous to so you can start taking the right things for you. If your doctor doesn’t know much about it, find another doctor or try a natropath as this is more on the natropath spectrum.
      Below is an extract from the tests my daughter received:
      Clinical notes: Methylenetetrahydrofolate reductase (MTHFR) is a
      regulatory enzyme in folate-dependent homocysteine remethylation. A
      mutation in the MTHFR gene may affect fertility in both sexes, mood
      disorders and mental health, autism spectrum disorders, risk of venous
      thrombosis and is associated with elevated plasma homocysteine. A
      common polymorphism (mutation)in the MTHFR gene at position 677 is
      associated with a thermolabile enzyme with decreased activity. The
      prevalence of the homozygous mutation ranges from 8-18% in various
      populations. A second mutation (at position 1298) has been described
      and is associated with increased homocysteine levels when in
      association with the mutation at position 677.
      I am not a doctor, natropath or expert in any way, but I hope this information leads you to some more answers.
      Rebecca

    • Rebecca July 27, 2012 at 12:11 pm # Reply

      Forgot to mention – taking just folic acid on its own (especially an increased amount) could cause you harm (my doctor told me to not take it at all) – best you research this. :-)

    • Lynn_M July 28, 2012 at 1:56 am # Reply

      Since it’s reported as a mutation and not the wild variant, then yes, T/T is the C677T mutation.

  6. Meg March 23, 2013 at 11:41 pm # Reply

    Dr. Ben.

    I am compound hetero and also Leiden V. I started juicing this past year and eating a plant heavy diet. No dairy, reduced gluten. We also have lived very pure the past 3 years (non-toxic living, organic local foods, etc).

    But all of a sudden I am having trouble with weight (never before this year). Rashes on my hands and legs, and itchy ears. Might be a sudden gluten intolerance but it did start around the same time I started juicing.

    I wonder if eating too many foods high in folate could actually be a bad thing for MTHFR? If our bodies cannot absorb it, will a diet high in folate start to pool in our blood and become toxic like a folic acid vitamin can do? I have heard some people do worse on a plant heavy diet and feel like they have become intolerant to foods high in folate.

    Maybe I am in denial. I can’t see how heating super healthy and juicing could be bad for someone, but I wonder? Any thoughts?

    Thanks!

  7. jane w February 16, 2014 at 7:37 pm # Reply

    I am 59 years old and most recently had this test the mthfr mutation and it came back T/T. I am hypopthyroid, losing my hair, a homocystein (sp?) level of 11 and a higher hs-crp. doc sold me some 5-l methytetrahydrofolate and didn’t tell me what else to do. Do I still take my vit B complex, my multi… I’m at a complete loss. I feel like something new has been thrown at me and now I’m more stressed. You call around to get information and everyone wants 100 here 100 there… and I don’t mind paying but who do I believe.

Leave a Reply

Read previous post:
L-Methylfolate Not Needed? Come On

I received an email from Breanne who kindly sent me a link to a blog post along with her comments:...

Close