MTHFR Mutations

MTHFR Mutations
When the body’s ability to produce glutathione is decreased, secondary to genetic mutations like an MTHFR mutation, the disease process is enhanced due to the build-up of toxicity in the body.

Methylenetetrahydrofolate reductase (MTHFR) is a gene that is responsible for producing an enzyme that converts folic acid to methylfolate, a bioavailable form of vitamin B9. Nutrient deficiencies of Vitamin B6, B12, and folate increase homocysteine levels which causes inflammation in the body. The ability of this gene to turn this switch on or off is crucial for the production of glutathione, the body’s most important antioxidant.

Glutathione plays a major role in the body’s detoxification of harmful, disease-causing toxins. When the body’s ability to produce glutathione is decreased, secondary to genetic mutations like an MTHFR mutation, the disease process is enhanced due to the build-up of toxicity in the body. Disorders such as autism, ADHD, autoimmune diseases, multiple sclerosis, fibromyalgia, heart disease, addiction, and miscarriages have been linked to MTHFR mutations.
Glutathione’s key role is the maintenance of intracellular redox balance (oxidation-reduction) and the detoxification of xenobiotics (a chemical or substance foreign to the body).

A defective MTHFR gene creates a vulnerability to disease processes as detoxification is impaired, leaving the body more susceptible to oxidative stress, and less tolerant of toxins such as heavy metals.

When the function of the MTHFR gene is impacted by a genetic mutation, individuals may be at risk for a variety of health conditions, primarily due to the disruption of the methylation cycle. Methylation and demethylation act as on/off switches in the body that control all functions of the immune system, such as how the body fights infections and viruses, to regulation of the immune response.

Research has shown that impaired methylation is directly correlated with autoimmune conditions and is associated with neural tube defects, cerebrovascular and cardiovascular disease, inflammatory bowel disease, colorectal cancer, and psychiatric disorders.

How Common is It?

While the science is still out on the prevalence of MTHFR mutations, some say at least 40 percent of individuals and as high as 90 percent of children with ASD carry one mutation. Mutations come in various forms and some are more problematic than others. If one parent passes on a mutation of either the C677T or A1298C gene, an individual will have a heterozygous MTHFR mutation of either gene. If both parents pass on C677T or A1298C, the individual would have a homozygous mutation. In rare cases, a combination occurs whereby one parent passes on C677T and the other parent passes on A1298C. Both the homozygous and combination mutations have the greatest effect on a person’s ability to produce glutathione. However, a single mutation of either gene also needs to be considered a risk factor and should be treated accordingly. Methylation can be decreased by 30 percent in those with a heterozygous mutation and up to 70 percent in those with homozygous MTHFR mutation.

MTHFR and Autism

In children with ASD, the heterozygous allele frequency occurred in 56 percent of children in one study, whereby the frequency was significantly lower in the control group (41 percent). This could indicate that the there is a genomic vulnerability in the folate pathway to environmental risk factors.

Although a review of the research indicates conflicting analysis, some studies show an association exists between MTHFR polymorphisms and an increased risk of ASD, suggesting the modulating role of folate may be affected by the MTHFR genotype.


Another study suggests that the enhanced maternal folate status before and during pregnancy may alter natural selection by increasing survival rates of fetuses who have an MTHFR mutation. Presumably, infants with an MTHFR polymorphism cannot maintain the higher folate status after birth, affecting neurodevelopment from the inability to detoxify environmental toxins. For example, individuals with ASD have been shown to have higher levels of heavy metals in their blood, leading researchers to believe that the MTHFR polymorphisms may be partly responsible for increasing their toxicity. While an association is likely, it is unlikely that this mutation is solely responsible for complex neurodevelopmental disorders and more probable that influencing co-factors exist. While more studies need to be conducted, the literature indicates there are opportunities for preventative diagnostics and treatment.

Testing and Treatment

MTHFR mutations can be identified through DNA methylation pathway profiles; however, it is not routinely tested unless there is a family history of a polymorphism, cardiovascular disease, thrombosis, or, if homocysteine levels are elevated. Genetic testing kits such as 23andMe are also being used by individuals to learn of their genetic vulnerabilities.

A simple blood test can check for elevated homocysteine levels which would indicate problems with methylation and the possibility of an MTHFR mutation.

For individuals with MTHFR polymorphisms, supporting methylation is of primary importance and can be improved with proper supplementation and diet. Because the conversion of synthetic folic acid to folate is affected by these mutations, steps should be taken to improve uptake of folate and to avoid the possibility of toxicity from synthetic folic acid. Generally, proper supplementation with bioactive forms of folate such as methylfolate (vitamin B9) and supplementation with methylcobalamin (vitamin B12), can improve methylation because they are bioavailable, as opposed to use of synthetic folic acid. Diets high in folate from dark leafy green vegetables provide natural folate necessary for proper methylation.

Folic acid is a beneficial supplement for the general population; in fact, fortification of wheat with folic acid is mandatory in the US.

Unfortunately, individuals with MTHFR mutations run the risk of toxicity since this synthetic form of folate is not readily converted to the usable form, L-methylfolate. This problem is two-fold.

Firstly, if 40 percent of individuals potentially carry mutations and most are yet unaware, it is mistakenly presumed that fortified foods are contributing to the recommended daily allowance of folate. More importantly, excess synthetic folic acid could become toxic to those with MTHFR mutations. This is especially critical for pregnant women who are prescribed folic acid supplements to prevent neural tube defects. On one hand, they are prescribed folic acid to prevent birth defects, however, if they carry the mutation, they are not necessarily preventing birth defects, and the folic acid can also cause toxicity. Similarly, once the baby is born, if they unknowingly are a carrier, they are more vulnerable to the effects of environmental toxins as their ability to detoxify is impaired. This is especially problematic if underlying genetic defects can be triggered by environmental exposures.

Given that this mutation is associated with numerous illnesses from having a high toxic body burden, a simple DNA methylation pathway profile test can allow individuals to make better healthcare decisions for themselves and their children and should be recommended for all.

Note: This article was reprinted with permission. It was originally published by Focus for Health.


30 Responses to "MTHFR Mutations"

  1. Rita   May 23, 2017 at 4:59 pm

    I’m 55 & had 2 miscarriages. In my pregnancy with my daughter, I took a baby aspirin the whole time I was pregnant & I KNOW that is why she is here, today, but she got the MTHFR (1298) from me & her dad. We just found out 2 months ago we have this gene, during our treatment of Lyme Disease & fortunately our wonderful Dr knew about this gene & requested the test before we came to him, so he would know how our bodies absorb nutrition & detox.

    I also had colon cancer 3 years ago!! It is so important to test for this! If I had know, I may could have done something to prevent the cancer! And the chemotherapy I had was platinum!! I am really trying to detox my body & environment to get to a healthy state!! I’m also trying to get my insurance to pay for our tests, which were $471. each!

    Thanks for getting the word out!

    • Lynda s   September 5, 2017 at 3:25 pm

      Rita , thank you for a very clear comment but I was wandering if you were treated by a
      “genetic ” Dr or what his field of practice was? Ive been told i need to see a genetic dr familiar with mthfr instead of cardiology, dermatology,gastroenterologist and so on. My allergist was unknowingly correct What was happening to me stating I was having an allergic reaction to toxins in the environment causing inflammation and said to eat organic foods and no preservatives. This was over ten years ago before dna and mthfr was brought to light.
      Thanks for any help regarding any Dr info. best of wishes with your health. lynda

  2. David Nicely   June 29, 2017 at 7:00 pm

    upon my return from DS, I had a very bad problem with my hips, had a P3 profile for a very long time…now i am having lower back issues and other issues . where do I go?

  3. Herb Weaver   March 27, 2018 at 9:14 am

    Could mthfr genetic mutation be affected by anthrax vaccine

  4. Britt   December 4, 2018 at 6:47 pm

    Rita my story is similar to yours several diseases including Lyme 4 miscarriages I diagnosed myself with blood clots and took aspirin carried my daughter to term

  5. Juliana   February 9, 2019 at 10:47 am

    How do we contact the person who wrote the article. I am double compounded heterozygous. So is my daughter. My son is double compound homozygous. I am short and my son was two years behind growth until we switched to Enlyte. It is broken down so people like us can absorb it. I can’t remember if the l folate is calcium based and Enlyte is magnisum based – so people can digest it easier. The doctor has had a success rate with the Enlyte . Joey has grown from being two years behind to 6 inches the first year and now is about 5 9. Also this helped his mentally as well – the Asperger like symptoms and anxiety. I’d like to talk to someone who really knows about this . We are getting missed reviews on handling this. Both kids even with the adult pneumonia shot holds less then half of the vaccine.

  6. Nan   February 20, 2019 at 10:25 pm

    What complete and total drivel – fear-mongering. As any gene in the human genome, there are variable incidences in different populations. Shockingly, these variations DO NOT correlate with increased incidence of autism, developmental delays, etc. THERE IS NO (repeat NO) link between vaccines and autism. Vaccines are what we take to protect not only ourselves, but the weakest among us (the elderly with waning immune systems, the NICU grads with weak lungs and poor nutrition, and the cancer survivors, who are on drugs that knock out their immune system. You people are truly reprehensible. How many people have to die from Measles or other vaccine-preventable diseases before you stop this hubris and become responsible members of society.

    • JP   February 23, 2019 at 9:07 am

      How about you watch Vaxxed, Nan…. and then shut your cake hole.

    • Lee   June 20, 2019 at 12:50 pm

      You are being very ignorant. They aren’t saying the vaccines cause Autism. They are saying that the individual child’s dna is not compatible with the ingredients and THAT is what causes the inflammation in the brain etc that results in autism spectrum disorders.

    • Jessica   July 14, 2019 at 10:27 am

      Um NaN,

      Name me anyone who has died from measles in the last 20 yrs in the US. As I age gracefully and wait for your reply…. I’ll have you know these gene mutations are very real and have huge impacts on those of us who have 1 or both copies. So back off buddy!!

  7. Dawn   February 22, 2019 at 9:02 pm


    It is not reprehnsible to question the safety of vaccines especialy since quite a few people have seen their kids change overnight as a result of vaccination.
    Name 1 person who was killed or harmed by someone elses choice not to vaccinate?

  8. Debra Wood   February 24, 2019 at 4:56 am

    I think the author is suggesting there may be a genetic link to autism that might be triggered by outside factors
    I don’t think they are saying that vaccines cause autism. I happen to have this gene mutation and had vaccines. Now my thing was I didn’t seroconvert with the vaccines so I ended up getting some of the diseases anyway. I retook all my childhood vaccines when I entered college. Had to take 2 courses of Hepatitis vaccines.
    It is good to know if you have a mutation of this gene because it can make you prone to things like blood clots. I have had two.

  9. Ruth   February 28, 2019 at 12:55 am

    Man, I’m a nurse. My son had a severe reaction to the old DPT vaccine and became “autistic”. They didn’t know what else to call it at that time. What he actually has is a rare epileptic encephalopathy. It was several years before that was figured out. So, yes, vaccines can and do cause “autism” which is a lumped together diagnoses of many disorders some of which have yet to be identified!

  10. Ruth   February 28, 2019 at 12:57 am

    Oops, that should have been addressed to Nan!

  11. Dan   March 9, 2019 at 5:42 pm

    Nan , you obviously haven’t done your homework. There are many studies out there relating vaccines to autism .

    Did you also know in the United States over 400 children under 3 have died from the measles vaccine?! Gee how many have died from measles in the last 20 odd years Nan . I’d say before you come on here and blow your horn do some research! I wish vaccines were safe! If they were why is there so much debate about them?
    Have fun reading these!!! There is always two sides to every story .

    I’ve got plenty more – although I feel this should keep you busy for a while if you choose to read any of them !

    • Suzanne Saxman   November 10, 2019 at 6:44 pm

      hello, I am just beginning to do research on dangers of today’s vaccines. I am a school nurse and this debate is alive and well at our school. I copied all the articles you sent to Nan. My daughter is childbearing age and I am concerned about the vaccines. We have a genetic disposition that does not allow us to detox things well. There is not enough research out there about these vaccines yet they give them anyway. Could you send me some more resources to research as well?

  12. Michelle   March 20, 2019 at 3:59 am

    Here is some real scientific research

    PLEASE PLEASE PLEASE people do your research before posting info relating to serious issues. For every article linking vaccines to autism I can point out one that will link maternal obesity and diabetes to autism

    • TireOfTheBS   April 29, 2019 at 6:52 pm

      Because the MTHFR mutation also causes those illnesses. Among others. It all points back to MTHFR

  13. Firuzi   March 22, 2019 at 8:20 am

    Pinterest is now not allowing us to PIN this article due to ‘inappropriate content’. How shameful.

  14. Aimee   April 6, 2019 at 11:40 am

    Regarding Nan and Similar: Making assertions without presenting supporting studies/evidence is a sign that being right and judging others is more important to you than making a contribution to society based on facts. Please do your homework and review All sides – especially the side you disagree with. Attempt at least Understanding other peoples views so we can debate in a productive manner. Everyone wants the best for children, we need to help eachother gain understanding and create solutions that protect as many lives as possible.

  15. Fed up   April 22, 2019 at 3:08 pm

    Unfortunately nan doesnt care because none of her children were normal and then became autistic after being jabbed with vaccines before they were 2. I would take measles over autism any day. I watched my verbal, potty trained son turn into a fecal smearing, head banging, almost comatose shell of a person. He is not the child I gave birth to. He also has the mthfr gene mutation, had I known how dangerous vaccines would be to him I would have never vaccinated him. We found out after doing genetic testing, which showed his autism wasn’t genetic.
    People are so brainwashed. I guess if it doesn’t effect you Nan why should you care?
    Maybe you will care when more than half the population is walking around smearing poop and can not talk. Then maybe you’ll wake up. I doubt measles will be a concern to you then.

    • KM   August 15, 2020 at 9:59 pm

      HI, can I ask you what vaccine your son got that triggered this? Just devastating 🙁

  16. Diana   April 24, 2019 at 3:35 pm

    Just to address your question of how many people die from measles every year (not sure if it was an actual question, or just rhetorical)…worldwide there are currently over 89,000 deaths from measles every year. The last reported death from measles in the US was a woman in Washington State in 2015 during a measles outbreak in her county.
    In the decade prior to the measles vaccine being introduced (1963) there were 3-4 million cases per year in the US, including 48,000 hospitalizations, 1,000 patients who developed encephalitis, and 400 deaths every year. In the early 1900’s (when disease reporting first started) there were around 6,000 deaths per year from measles.
    This data was found on the CDC’s website, take it or leave it. I know this may not change people’s thoughts on the MTHFR gene and vaccines, but just thought I could answer the question you asked.

    • TJ   April 29, 2019 at 6:55 pm

      I don’t trust the CDC. You aware of all the crap they pass without testing? Yeah… $$$$$ makes the world go round. UGH

  17. Elizabeth J   May 17, 2019 at 1:28 pm

    The MTHFR Mutation is in our family and effects us all in various ways- the Homozygous family members seem to struggle the most. IV and Oral Chelation + daily Methylated B12 and Methylated Folate + daily Glutathione + daily Vitamin C seem to help us the most.

  18. MP   September 19, 2019 at 1:02 pm

    Wow it is people like Nan, who are the problem with America. They believe the lie that pumping toxins into the body will make them healthier and that the drug companies who have created the opioid epidemic really care about our health. They care about money and the bottom line. Also creating life long customers… Pharmaceuticals are not one size fits all. But that is how they sell them. And so what if they ruin a few lives, its for the “greater good” and creating their so called Herd Immunity nonsense. Get WOKE Nan and do some unbiased research and don’t let the. Check out and tell those people who were awarded billions that vaccines are safe and effective.

    Thank you for this article. All the woke people will benefit at least.

  19. Sylvie   January 1, 2020 at 11:51 pm

    Dan, thank you for all the links to the studies! I realize it is not just important to know the facts after reading the studies, we should also keep the links to the studies, and even a copy of them in case they censor this information some day. We need the link to share with people who want to know the truth.I had not kept all the links to the studies I read and so I am keeping your list and from now on, gathering them as you did.

  20. Sylvie   January 1, 2020 at 11:52 pm

    Thank you for this excellent article on the role of the mutation.

  21. Raychel   March 8, 2020 at 1:41 pm

    Hey Nan… check out the federal court ruling that just happened on March 5, 2020. Turns out that the CDC could not produce a SINGLE study that supports their claim that vaccines don’t cause autism. #ThingsThatMakeYouGoHmm

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