What Is the MTHFR Genetic Defect and How Can it Affect You?

by Dr. Edward Group DC, NP, DACBN, DCBCN, DABFM
Published on , Last Updated on

A DNA image of an MTHFR genetic defect. This gene tells the body to make an enzyme needed to convert vitamin B9 into its active form.

Many news outlets, and indeed some pharmaceutical makers, lead us to believe that we are merely a product of our genes, but this isn’t true at all. In fact, studies on identical twins, who start out with identical genes, reveal that lifestyle is a much more powerful influence on health.[1] So while your genes do play a role in the initiation and development of some diseases, you day-to-day choices largely determine how (or if) these genes can affect your life and health.

What Is the MTHFR Gene?

Genes are stretches of genetic information on your chromosomes that provide instructions to your body. The MTHFR gene provides the directions to produce an enzyme called methylenetetrahydrofolate reductase. This enzyme is responsible for many important processes such as amino acid balance, DNA synthesis, and repair, regulating gene expression, converting inactive folic acid or folate into the active form your body uses.

Note: The abbreviated MTHFR gene is often confused with the enzyme it codes for, methylenetetrahydrofolate, and the product the enzyme helps make, levomefolic acid (also called L-methylfolate and 5-methyltetrahydrofolate). For clarity, we will specify either the MTHFR gene, the MTHFR enzyme, or levomefolic acid throughout this article.

Effects on the Human Body

If you have an MTHFR mutation, an inability to process folic acid (vitamin B9) can have serious effects. A deficiency in B9 can cause a growing fetus to develop devastating neural tube defects like spina bifida or anencephaly. Folate deficiency can also result in lethargy, impaired cognitive function, and mood disorders.[1, 3]

Active folate plays a vital role in amino acid conversion, specifically in the homocysteine to methionine cycle. Methionine is an essential amino acid required for producing glutathione, the body’s primary antioxidant product. The liver converts methionine into SAM-e, a chemical that helps metabolize the neurotransmitters dopamine, serotonin, and melatonin. The brain needs methionine to produce myelin, a coating that covers your brain cells’ axons, to quickly transmit information and impulses. A defect in the MTHFR gene may promote high levels of homocysteine levels in your tissues, negatively affecting mental health and mood.[4, 5]

B9 to Active Folate Conversion

The MTHFR enzyme converts inactive folate to the active form your cells need, levomefolic acid. Put more simply, this gene is responsible, in part, for converting vitamin B9 (folic acid) into a form your cells can use for metabolism. If you aren’t able to convert inactive B9 into levomefolic acid, the effects multiply as other metabolic processes are affected, and cellular processes slow to a halt. Depending on the severity of the variation, you might be completely unable to convert inactive B9 to its active form, or simply have a reduced capacity to do so.

Active folate is essential for cell division, heart function, DNA synthesis, DNA repair, eye health, brain function, memory, and proper fetal skeletal and brain development.[6]

Elevated Homocysteine and Methylation

You need levomefolic acid to convert the amino acid homocysteine into other forms required by the body. Without this enzyme, homocysteine can build up in your blood and other tissues as you are unable to produce homocysteine-derived products like cysteine, methionine, and other necessary intermediaries you need for an assortment of metabolic processes.[7]

Methylation, a process involving the transfer of a methyl group to another compound, is also associated with the MTHFR gene. Proper methylation enables the body to detoxify some potentially risky compounds generated by, or taken into, the body. Levomefolic acid is a universal methyl donor, which means it can safely transfer its methyl group to detoxify or otherwise modify compounds in your body. Methylation is particularly important in the brain.[5]

As mentioned previously, a defect in the MTHFR gene can cause an abnormally high level of homocysteine in your tissues. High levels of homocysteine are associated with cardiovascular disease, high blood pressure, glaucoma, ischemic stroke, and atherosclerosis.[3] Research links migraines and mental disorders such as schizophrenia, bipolar disorder, and depression to inadequate methylation resulting from variances in the MTHFR gene.[8, 9]

Lifestyle Modifications and Solutions

Whether your doctor has determined that you have the MTHFR gene defect or you are experiencing similar symptoms related to the disorder, there are a few steps you can take to protect yourself from its effects.
First, consider limiting animal protein in your diet. You’ll find methionine in plant foods, like soy and beans, but it’s much more concentrated in animal-based foods.[10] Further, make sure to avoid synthetic folic acid and exposure to environmental toxins which can tax the liver. Perform a liver cleanse at least twice a year to facilitate the removal of toxins and wastes. Finally, speak with your healthcare proveder about methylated folate. This is the active form of folate that your body should convert B9 and it may be an important supplement to implement in your daily health regime.

References (10)
  1. Kulshreshtha, A., et al. "Association Between Ideal Cardiovascular Health And Carotid Intima-Media Thickness: A Twin Study." Journal of the American Heart Association 3.1 (2014): e000282-e000282. Web. 6 Apr. 2017.
  2. Reference, Genetics. "MTHFR Gene: Methylenetetrahydrofolate Reductase." Genetics Home Reference. N.p., 2017. Web. 6 Apr. 2017.
  3. Li P, Qin C. "Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis." Gene. 2014 Feb 10;535(2):359-64. doi: 10.1016/j.gene.2013.09.066. Epub 2013 Oct 16.
  4. Young, Simon, and Shalchi, Marjan. "The Effect Of Methionine And S-Adenosylmethionine On S-Adenosylmethionine Levels In The Rat Brain." Journal of Psychiatry and Neuroscience (2005): 44-48. Web. 6 Apr. 2017.
  5. Karakula, H, et al. "Does Diet Affect Our Mood? The Significance Of Folic Acid And Homocysteine." Polski Merkuriusz Lekarski 152 (2009): 136-141. Web. 6 Apr. 2017.
  6. "Vitamin B9 (Folic Acid)." University of Maryland Medical Center. N.p., 2017. Web. 6 Apr. 2017.
  7. Jakubowski, Hieronim. "Pathophysiological Consequences Of Homocysteine Excess." The Journal of Nutrition 136.6 (2017): 1741-1749. Web. 7 Apr. 2017.
  8. Azimova J.E., Sergeev A.V., Korobeynikova LA., Kondratieva N.S., Kokaeva Z.G., Shaikhaev G.O., Skorobogatykh K.V., Fokina N.M., Tabeeva G.R., Klimov E.A. "Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine." BMC Neurol. 2013 Aug 5;13:103. doi: 10.1186/1471-2377-13-103.
  9. Gilbody S., Lewis S., Lightfoot T. "Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review." Am J Epidemiol. 2007 Jan 1;165(1):1-13.
  10. McCarty, Mark F., Jorge Barroso-Aranda, and Francisco Contreras. "The Low-Methionine Content Of Vegan Diets May Make Methionine Restriction Feasible As A Life Extension Strategy." Medical Hypotheses 72.2 (2009): 125-128. Web. 7 Apr. 2017.

†Results may vary. Information and statements made are for education purposes and are not intended to replace the advice of your doctor. Global Healing Center does not dispense medical advice, prescribe, or diagnose illness. The views and nutritional advice expressed by Global Healing Center are not intended to be a substitute for conventional medical service. If you have a severe medical condition or health concern, see your physician.

  • Judith

    This article is confusing to me -perhaps someone can enlighten me. It says that someone with with MRHFR gene can have difficulty using folate. From my understanding it is folic acid which is difficult to convert but this can be overcome by taking methyl folate. I have always though folate was OK. I would appreciate someone’s advice on this.

  • sophia

    the article sais MRHFR mutation is responsible for that. If you continuously show up as being chronically deficient in folate or the B vitamins then this may be why.. you have the mutation. This does affect some people. Otherwise you are ok even with the defect. I think it’s good to know if you have a defect, or not or mutation because then you know which alternative and natural path to go down and which products will help with digestion, elimination, metabolism, etc. it’s all about learning more about who we are as individuals….

  • einahpets

    Hello, am I misunderstanding–isn’t it MThfr, vs MRhfr? Sorry noone responded, Judith. From my understanding (some college in both nutrition,and laboratory studies, and 20yrs in med. lab) folic acid and folate are the same thing, in different forms. I think both can be taken into your body in food, but one is the active form in the body. Folic acid is very important in developing fetus, thus it became a government prescribed supplement for pregnant women. My mother was probably low in it, before 1952 supplements, and my sister had both mental retardation and severe imbalance between bone growth and soft tissue (muscle, skin, organs) growth. She had a 6 foot spine (all us “sibs”) in a 4 foot 11 inch body.
    My parents had many of the conditions listed in this article, while the remaining children have long medical histories. Possibly due to nutrition from being born in the depression??
    I can’t remember everything, but Folic Acid has a big part in Hemoglobin (red stuff-a protein) of the Red Blood Cells, which delivers oxygen to the cells all over the body. Those with anemia, also have problems with what the liver does in everything cholesterol related.

  • kim

    Folic acid and folate are not the same things, folic acid is the chemical version of folate(B9). Those that have the MTHFR gene defect should avoid folic acid because their body’s are unable to convert it to a usable form, therefore it builds up in their system and can attach to folate (active form B9) making it unusable by their body’s as well.

  • Martins

    I have a question.. I have the mthfr gene defect. I also am a epileptic (still active ) do you think theses two things are related? I am always freezing esp hands and feet . But I also sweat (which is discussing) . Sometimes I go through 6 shirts a day. I also have a no appetite . Currently I am off all meds. I was on 19 medications which was 42 pills total a day. Every doctor I see just wants to push medications no other supportive care. Just trying no to go back to all the scripts.. any suggestions? I’m open to all ideas except to feel like a zombie again.

  • It’s tough to say definitively but it’s also hard to ignore the absolute interconnectedness of our bodies… I understand your frustration with the just-take-a-pill approach. Have you been able to find a natural healer in your area who can offer first hand evaluation?

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  • Kristen

    I just typed a huge response and went to sign in to post and deleted! So will make a brief one and feel free to get in contact with me if you want to go more in depth. Everything is connected and it is very likely that the root causes of those conditions are directly related. As a Holistic Healer specializing in Vibrational Medicine, it seems to me that there is an underlying theme that connects all of those conditions together. Let me ask you this: how connected to you feel to your family and friends? How do you feel about your home, work, and about food? If you are unhappy in many or all of these areas, you could be resisting fully grounding your energy, you being fully in the moment, fully in life. There could be some blocks in your mid to upper body in the upper chakras, keeping energy from fully descending down your spinal column. Now if you were just on a bunch of meds, then chances are they are even more blocked now. There are many things you can do to release blocked energy and heal. Do some research. Work with a holistic doctor or practitioner, someone that knows how to treat and correct imbalances and blocks in the body. Work with someone 1:1. I could help you with understanding of your energy system, how it works, what is happening when it’s not functioning properly that manifests as conditions such as those, but do not specialize in those conditions themselves. Congratulations on taking control of your life and getting off of meds that make you feel like a zombie. I recommend medical marijuana for the epilepsy, there are many studies proving that it significantly reduces and even eliminates epilepsy. Many parents have turned to medical marijuana for their children (in the form of capsules, edibles, just to deliver the therapeutic canaboids that does not give them a “high”) and their children all of the sudden stop having seizures. Something to look into 🙂

  • Kristen

    I think you are correct, I reread it multiple times and I’m not seeing any reference of someone with the genetic defect having difficulty using folate. We need folate! It’s essential! It’s the folic acid that is not necessarily usable, and creates a deficiency of folate, since those with the mutation cannot covert the folic acid.

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  • bodica

    An authentic, experienced Homeopathist should be able to help you.

  • Donna

    This is strange I was told to stay away from cabbage, greens, salads, but I was put on folic acid tablets

  • Judith

    Well Donna – I think many medical and health practitioners are unaware of the difference beween folic acid and folate. Our autistic granson was not abe to process folic acid and it became a toxin in his system but the GP did not know the difference or the fact that someone with the MTHFR genetic defect may not be able to process it. He started to really improved on the Methylated B vitamins.

  • CJ

    Nice you say that this mutation isn’t dangerous in your opening paragraph. If you have a double mutation as I do, MTHFR is very dangerous. Please research a bit more before making a statement like that. People die of coinary disease and DVT. People with MTHFR need to be aware of this mutation and change their lifestyle.

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  • Kathy Rainero

    Thanks for bringing this up. I also have the double mutation and had 3 runs with cancer and now showing to be at risk for arthrescolosis with high homocysteine and CPR and both my parents have heart disease. One has 7 stints and other had a 5 way. Along with thyroid kidney etc. My son is getting tested this month he has big issues with thyroid cognitive and depression. Yes it surely is dangerous

  • Kathy Rainero

    Oh and my son had a cancer scare at age 10 and we all have digestive problems

  • Kathy Rainero

    Not the same at all

  • Tiffany Rearley Riffle

    Can you please tell me which tests you are referring to. I know I have a mutation but no doctor has addressed the issue. I have many health problems.

  • Tiffany Rearley Riffle

    On the back of my vitamin bottle, this is how it’s labeled…
    Folate (folic acid)……400 mcg (amount per serving)
    I’m wondering if I should take it since I have a C677T mutation.

  • Kathy Rainero

    Personally I wouldn’t but maybe best to see what others say as well

  • Kathy Rainero

    MTHFR GENE MUTATION

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  • susansylvia

    I agree. I have experienced a lifetime of serious health problems due to this problem, many of which could have killed me including several bouts with pneumonia, and breast cancer. MTHFR is clearly linked to tne three biggest killers today–several cancers, heart disease and diabetes, all of which I was facing without treatment. It’s an insult to say this problem is not dangerous–try walking a mile in our shoes.

  • Lisa

    the MTHFR variant is also a fairly new genetic finding, so many doctors are not yet aware of it, or if they are, that folic acid is a problem and not a good way to increase the folate. I have tested as having an MTHFR C677T mutation and my doctor actually told me that means I needed to take MORE folic acid. I’m so glad I researched it before doing that as it could have made my symptoms worse. She didn’t mean to give me poor information, she just knew enough about this new finding to be dangerous.:-(

  • Lisa

    I’m not a doctor, but I have recently found out that I have one of the mutations MTHFR C677T. My understanding is that since my body is not utilizing the folic acid, it actually builds up in my body, in my blood. So no, a blood test would not necessarily show a deficiency if I had a build up of unprocessed folic acid nor if I was being negatively impacted by not processing the folate well. Yikes, huh?

  • Lisa

    I recently found out I have a single mutation, C667T, and I’ve still had ill effects. So yes I agree with you, this could be potentially life altering, in a good way, for people to know about so they can do something about it! It’s a fairly recent genetic finding, so I’m open about going easy on folks ignorance, for now, but the ignorance needs to be educated because this turns out to be a fairly common issue. The folic acid being added to everything needs to stop in it’s place an easy to methylate B vitamin. Please! Even people without this variation can more easily use methylfolate over folic acid.

  • Lisa

    I wouldn’t. I also have C667T variant and after researching it, I’m not taking any vitamin that has folic acid in it. Only l-methylfolate also called 5-MTHF or Metafolin.

  • Greg Louderback

    I was just diagnosed with this. There are over 40 different types of mutations that can affect you. But my doctor said it’s usually just 1 that will affect you. He said I have multiple gene mutations that are affecting my health. Needless to say I haven’t had an easy way to go. I test positive for lupus but they say it’s not. I have several different types of arthritis with a crazy one that travels to different parts of my body. I have an enlarged heart, hardening of the arteries, severe DDG and a hyperactive immune system. Blood clots went to my lungs of 3.5 cm and 5 cm which took close to a year to recover from but the arthritis had set in and a loss of height of 4.75 inches total now. Now I’m having a problem with the red blood cells increasing without the oxygen in them adding to the difficulty of breathing because of the COPD. I have also had a problem with a high level of homocysteine that is being difficult to lower. I have been on folic acid which has been changed to Folgard. It’s a new type of folic acid that has other supplements in it. I can’t eat traditional foods with folic acid because of the vitamin K in them. Now I take 10 pills a day that not even one of them is a narcotic. So I also stopped many of the narcotic prescriptions that I have taken for years. I still have to take a pain pill or muscle relaxer every now and then when I can hardly stand it any longer. They help much more when you take fewer of them.

  • Justin

    I have double C677t mutation and I feel a lot worse when I eat salads. I thought they’re supposed to be good for you since they contain folate. Am I mistaken?

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  • Linda

    Hi I am heterozygous for MTHFR A1298C and C677T I have Chronic Fatigue Syndrome, Psoriasis, and possible IGA Nephropathy, Depression, B12 deficiency, I have red blood cells in my urine had 2 cystoscopy’s no cancer they think its from the kidneys, autoimmune. Nothing ever shows up in my bloods I think these mutations are serious, and now I know I have them, try and put it right through methyl donors. On my mothers side of the family including my mother there are four with hypothyroid disease, and one of them has stomach cancer. My doctor knows nothing about MTHFR I’m saving up to see a naturopath. Hope your son is feeling better now.

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  • Susie

    I’m sorry you are dealing with so many health issues. I was found to have the single mutation and I was told by my doctor to take L-methyl-folate in a pill called Deplin. This was prescribed because of my depression. I decided to go off of the 5 milegrams of Lexipro (anti-depressant) and just stay with the Deplin. I am doing o.k. I wonder if the L-methyl-folate would help you. What I was told not to take is folic acid because I don’t asimilate it. So, I take L-methyl folate.

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  • Ailsa

    Are you eating organic salads? Are you using dressings with additives — or anything else that is fortified or has additives? People with MTHFR (especially double MTHFR) will have difficulty with eliminating all toxins, not just folic acid. A clean diet is crucial.

  • Ailsa

    Get tested for cobalamin genetic issues (or genetic “snips”). It sounds like there could be a lot more than MTHFR going on.
    If you only have MTHFR issues (and no cobalamin snips), then get tested for MMA (methyl malonic acid) levels and seek advice from an experienced physician in metabolic disorders with regard to topping up your adenosylcobalamin stores if MMA is low. It sounds like your adenosyl is low. Hydroxocobalamin may be enough, however, you won’t know without the genetic tests.

  • Folic Acid and Folate are NOT the same. Folic acid is the manmade form (B9) and folate is the type found in nature. Methylfolate is simply the most bio-available form of folate (and you should take a methyl version of B12 too so you don’t get headaches) and this means that it is easiest for those with the MTHFR mutation to process through their bodies.

  • Dr. Stephen Smith

    Great information. I consider myself an expert in the field of MTHFR and I’m looking to connect and discuss this topic more with other experts in the field.

    Thank you,
    Dr. Stephen Smith

  • Al

    The liver cleanses itself. It does not need your assistance.

  • Al

    L-Methylfolate is simply an activated form. Folic acid is perfectly natural and is not only man-made. Many vitamins we take AND get from food are activated within the body.

  • Carolyn

    What would you say to someone who has a child double in both the defects… she is being treated by psychologists with chemicals… and specialist in California when she had a bout with blindness… that was the chemo drug!!

  • Terri Kerley

    Thank gand oodness my pain management Doctor performed the test. I am MTHFR C6771 and A1298C, also. I have had 2 runs with cancer. 1 kidney operation, and autoimmune runs rampid on my mother’s side of the family. Thy

  • Linda

    Hi Ailsa, Thank you for replying. I did a 23andme DNA test I am also MTR/MTRR +/- on some snps CBS +/+ and VDR Taq +/+ COMT +/- I cannot tolerate Folate supplement even in small doses and eat folate foods every day as not taking folic acid. I have a 12 weekly Hydroxocabalamin injection but that’s not enough and suffer on this I’ve added a low dose methylcobalamin daily and feel so much better I’m going to add some adenosylcobalamin also. My Haematologist has told my doctor to check my bloods they wont believe I have a problem when my B12 levels fall to 300s then go up to 600s after B12 injection, I have a lot of symptoms unless my B12 level is above 600 then I’ve noticed the tingling in my hands goes, I have more energy and depression lifts. Its a case of helping myself, I’m not in a position to get advice from a physician in metabolic disorders I wish I was, I’ve seen 4 consultants in the UK they say all my tests are ok my urologist said some people have blood in their urine and we don’t know why Nephrologist said possible IGA Nephropathy. I’m going to treat my genetic mutations and hope for the best.

  • Linda

    Hi Terri, I had a 23andme DNA test done and now trying to treat myself there’s lots of info on genetic mutations out there. I go on FB groups for CBS and MTHFR to find out what works for them. If you decide to supplement with folate start low as I had a major melt down on even a low dose I wont touch it now, and just make sure I eat plenty of folate foods. Not everyone is affected like this. Something I have noticed on FB vitamin B12 and vitamin D deficiency groups is that a lot of people who have thyroid issues have problems with their B12,D3,folate, and ferritin so make sure your doctor checks these for you. I hope you find some help.

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  • Mila Rad

    Also, the phrase ‘suffering from methylation’ is way off / confusing. I don’t think there was an editor for this piece.

  • Pat Lee

    If neither parent has this mutation , how does one of the children get it?

    Pam

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