MTHFR gene mutations are the root of all health problems

MTHFR gene mutations are the root of all health problems

Note – this article, all about the MTHFR gene mutations, and how overstated it is, has been revised and published here.

I have a love-hate relationship with the internet. I love that I can Google a question like “who was the second basemen for the Pittsburgh Pirates in the 1960 World Series?” It was Bill Mazeroski for those who care.

Although I think that Wikipedia needs to be used skeptically, it is a wonderful fountain of delicious knowledge. I sometimes just read random articles, and I enjoy the writing, scholarship and knowledge. Some articles, like World War II or the Roman Empire, are truly detailed pieces of scholarship.

But sometimes, the internet does a disservice to mankind, especially when medical information (or really disinformation) is presented as fact. Like vaccines cause autism. No, it doesn’t.

Or that chronic lyme disease actually exists. No it doesn’t.

Or that high fructose corn syrup causes obesity and diabetes. No it doesn’t (except that eating a lot of any sugar might do that).

But the newest one, at least for me, is that MTHFR gene mutations cause nearly every disease known to mankind. Seriously, apparently it is the root of all health evil, and the mutation is caused by…anything.

What is this MTHFR gene?

Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. In other words, the MTHFR gene is responsible for production of an important enzyme.

This enzyme is a critical part of the methionine and folate cycles, which are important to manufacturing methionine, an amino acid which is a fundamental constituent of all proteins on the planet, and  folate (or folic acid), which is an essential nutrient.

"MTHFR metabolism" by Epgui - Own work. Licensed under CC BY-SA 3.0 via Wikimedia Commons
“MTHFR metabolism” by Epgui – Own work. Licensed under CC BY-SA 3.0 via Wikimedia Commons

As obvious in the chart above, the MTHFR gene has a central role in a very complicated biochemical pathways. MTHFR enzyme deficiency (caused by one of several MTHFR gene mutations) leads to two important problems:

  1. Accumulation of the methionine precursor, homocysteine, which can lead to several types of injury including DNA and vascular damage. People with high homocysteine levels typically respond well to supplementation with vitamins such as B6, B12, and folate or folic acid.
  2. Lack of folate (folic acid), which leads to several known issues, is  easily treated with folate or folic acid. As I’ve discussed in scientifically detailed manner previously, folate and folic acid are simply two forms of the same chemical, indistinguishable by the human biochemistry.

There are several mutations in this gene that have been identified, but in all but a handful (less than 50 cases), residual MTHFR enzyme activity remains, sometimes close to normal levels. To be clear, MTHFR gene mutations are not an on/off proposition–there is a range from almost no MTHFR enzyme activity (very rare) to almost “normal” physiological levels. What matters is not the mutation itself, but the levels of homocysteine or folate, which, again, can be easily diagnosed.

Genetic variation in this gene may influence susceptibility to peripheral artery disease, neural tube defectsAlzheimer’s disease and other forms of dementia, colon cancer, and acute leukemia. Additionally, variations of MTHFR gene mutations have been studied in connection to stroke, high blood pressure and heart disease, as well as bipolar disorder and other conditions. However, these associations have not been established by high quality case-controlled epidemiological studies, there are only some preliminary observations that probably need to be investigated more fully.

One last thing. MTHFR gene mutations are easily diagnosed by high levels of homocysteine and low levels of folate. These conditions can be diagnosed with an inexpensive test (or if you’re willing to waste money by a genetic test, but that’s really not necessary). Of course, those who eat a good diet of foods high in folic acid (which includes a lot of different foods including beer) probably would not notice  MTHFR gene mutations.

Now let’s get to the internet myths about the MTHFR gene mutations. This will be loads of fun.

 

Your child can “catch” a mutation of the MTHFR gene

Absolutely not. One of the several mutations of the gene is generally passed from the genetic material of one of the child’s parents. It is either there or not there (although there is a tiny chance that the mutation might form in the zygote, but that’s awfully rare).

When the fetus is developing, you cannot cause a mutation in one (or even several cells) and that mutation spreads to the whole fetus. That’s not how it works, genes from one cell do not “infect” other cells of the developing fetus. If that kind of genetic transfer were so easy, gene therapy would be the easiest treatment known to medicine.

An infant, child or adult cannot have one of several MTHFR gene mutations spread through the whole body. So, vaccines, gluten, GMO foods, mercury, unfiltered water, fluoride or whatever nonsense known to the internet cannot induce a mutation in a whole body. It is possible that the original MTHFR gene mutations in the parental genotype were originally caused by some environmental factor, but it could have happened many generations before.

Don’t vaccinate a child with MTHFR gene mutations

There is no evidence of this danger, despite widespread internet rumors and myths to the contrary.

There is precisely one published article, published in the Journal of Infectious Diseases nearly 7 years ago, that examined adverse events after a smallpox vaccination being associated with MTHFR gene mutations. What they concluded was:

While the association of AEs (adverse events) with a non-synonymous polymorphism in the gene for MTHFR points toward functional significance of this SNP (a single nucleotide mutation), fine mapping of this locus should determine whether this is indeed the case.

For all three candidate genes, both follow-up replication and functional studies are needed to establish the plausibility of the association of common genetic polymorphisms with the hypothesized etiological pathways.

Editor’s note: they examined three genes, only one of which was associated with MTHFR.

In other words, they found some evidence, but the evidence did not support a conclusion that vaccinating individuals with the MTHFR had increased adverse events.

Moreover, they state that plausibility needs to be established first. There is not much biological plausibility that  a vaccine can be associated with the MTHFR enzyme.  Though the folate and methionine cycles appear to be complex, they really aren’t, and they are isolated from other biochemical pathways in the body because they occur within cells. And individuals who are being successfully treated for the consequences of MTHFR gene mutations probably wouldn’t be affected by vaccines.

Unless you ascribe to the logical fallacy of the precautionary principle, meaning you need to have evidence that there are no risks whatsoever, then there really is nothing here. But I guess we could waste money, like we did debunking the vaccines cause autism myth.

 

Quacks and MTHFR gene mutations

One internet quack, Ben Lynch, a naturopathic “doctor” (pure pseudoscience), tries to make claims that MTHFR gene mutations cause a whole host of diseases, using “peer-reviewed” articles. Many of the studies are just plain cherry picking, choosing research that supports his point of view, rather than looking at studies that dispute it.

For example, Mr Lynch (he is not a real doctor, so he doesn’t get that title) claims that one of the MTHFR gene mutations is related to colon cancer. This research can be easily disputed by:

  1. It is published in a very low impact factor journal, not well cited by other journals.
  2. It uses a small population (about 300 subjects) in one small area of China. The confounding factors are so huge as to be almost laughable.
  3. There does seem to be some relationship between the gene and colon cancer, but ONLY in patients that had low folate intake and low folate blood levels. Moreover, there were a large number of confounding variables like smoking and diabetes that also increase the risk of colon cancer in the same group. No study could disassociate the various factors from MTHFR gene mutations.

I would bore you with a discussion of each paper, but as I reviewed each one, I could find none that associated one of the mutations with a particular condition that couldn’t be easily treated. The mutation itself didn’t cause the disease directly–it was the lack of treatment that lead to the disease.

Lynch is trying to tie the disease states to various MTHFR gene mutations – but, the mutation doesn’t cause the disease, but the lack of folate or excessive homocysteine, both of which can be treated quickly and successfully.

But the most glaring and horrific error in his list of “research” was a claim that thiomersal was associated with autism with those who have one of the MTHFR gene mutations. The evidence comes from whale.to, an antisemitic, hate-filled, chemtrail believing website run by a pig farmer. I kid you not.

Using whale.to as your evidence, which ranks at the bottom of the hierarchy of scientific evidence, is almost sufficient to dismiss everything that Mr Lynch claims with respect to MTHFR gene mutations, because if he couldn’t use real science there, it’s obvious that he really doesn’t understand science. But then again, Lynch is a woo-pushing naturopath, so there’s that.

 

The TL;DR version

  1. MTHFR gene mutations are a serious problem if left untreated.
  2. The consequences of MTHFR gene mutations can be easily diagnosed and treated, even in the young.
  3. MTHFR gene mutations are, as of the date of this article, unrelated to any vaccine adverse effect.
  4. MTHFR gene mutations do not lead directly to various disorders and diseases, only the the lack of a cheap and effective treatments do.
  5. Quacks who are pushing MTHFR gene mutations as the basis of a wide range of diseases are in it for money, because, it is easily and cheaply treated (in most cases).

Editor’s note: This article was originally published in May 2015. It has been extensively revised and updated to include more comprehensive information, to improve readability and to add current research.

 

Key citations:

  • Reif DM, McKinney BA, Motsinger AA, Chanock SJ, Edwards KM, Rock MT, Moore JH, Crowe JE. Genetic basis for adverse events after smallpox vaccination. J Infect Dis. 2008 Jul 1;198(1):16-22. doi: 10.1086/588670. Erratum in: J Infect Dis. 2008 Sep 1;198(5):796. PubMed PMID: 18454680; PubMed Central PMCID: PMC2746083.

 

 
 
The Original Skeptical Raptor
Chief Executive Officer at SkepticalRaptor
Lifetime lover of science, especially biomedical research. Spent years in academics, business development, research, and traveling the world shilling for Big Pharma. I love sports, mostly college basketball and football, hockey, and baseball. I enjoy great food and intelligent conversation. And a delicious morning coffee!
  • Pingback: Stop naturopathic pediatrics: autism and MTHFR? - Naturopathic Diaries()

  • Pingback: The Inaccuracies of Stop Mandatory Vaccination’s Claims: Part 2 – On The Fence About Vaccines()

  • Pingback: SPOCKS’ DAUGHTER’S CONNECTIONS | Ricia Rites()

  • Becky B.

    This is my second try. I am not sure what happened to my first comment. Just ignore this one if it is a repeat. What I said was that, actually, people with MTHFR mutations will have very high folic acid levels upon testing. This is because they cannot convert folic acid into its usable form. Therefore, their bodies store this folic acid and actually is part of the gunking up of their methylation cycle. A slightly better test would be a folate RBC or a micronutrient test to measure what is actually being used. Also, do not breathe a sigh of relief if your homocysteine levels are good. You very well could be compound heterozygous with normal levels. Also, the only ones bothered with chronic Lyme are the 20% of people with certain HLA mutations. So 80% of people take their antibiotics and get better with no problem. So it makes the HLAers very frustrated that our society does not sometimes recognize this problem. Many people do not know their HLA status. This is very important to know if you are dealing with Lyme or mold…or both. You would need to take some form of toxin binder, because people with certain HLA mutations lack an enzyme or enzymes in their livers that help detoxify toxins and die off. Just be thankful if antibiotics make you better. It is all about genes.

    • Evidence please. This sounds like a whole lot of junk science.

    • Also, I can’t see where this has been duplicated. It’s possible the internet had a temporary insanity period. Sorry.

  • Tracey A. Jones

    I’m at work right now so can’t do my own in-depth research, but have you come upon anything in regards to MTHFR mutations and blood clots? My gynecologist first mentioned it and my primary doctor approved the test, but the lab lost the results the first time around. I’ve had a weird year for health and I’m wondering if it’s worth following up on.

    Anyway, sorry for the life story. Your blog looks interesting; I’m glad to have found it!

    • I could find nothing about blood clots per se. It’s possible that further down the metabolic chain, the lack of homocysteine could impact the development of clotting factors.

      http://www.ncbi.nlm.nih.gov/pubmed/23828072 seems to indicate that MTHFR is not related to a couple of different types of thrombosis.

      People seem to invent a lot of stuff related to MTHFR.

      • Tracey A. Jones

        Ooh, a paper, perfect. Thank you.

  • Nat Comstock

    I agree with all you say except for “that chronic lyme disease actually exists. No it doesn’t.”

    Unless you hare spent your lifetime rsearching this horribly destructive disease, I beg you to not make blanket statements.

    I have years of medical evidence that this bacteria that first infected me after a tick bite in 1980 has ravaged my brain. It is a very political and nasty battle, and those of us on the patient side, without acess to trained doctors, are left with no help and little research dollars. There isn’t a cure for Lyme Disease without getting abx within a window of time after of being infected.

    I have taken the skeptics view only to be shown spyrocheyes under a microscope then from my own tissue.

    I really don’t care whether you believe in it or not, but unless you have scientific, undisputed truth, I’d appreciate if you would not spread blanket statements on the internet.

    You are doing exactly what you speak ill of. Obviously you have the freedom to say what you want, but choose something less hurtful

    • Chronic lyme disease does not exist. Not according to me, but to just about every science-based medical association in the world.

      First, your story is anecdote. I don’t know if you were taken under care of a quack, and there seems to be hundreds of lyme disease quacks in this country. My own anecdote is someone close to me is spending her disability paying for a Lyme Disease quack who refuses to take Medicare payments. It’s more that Medicare doesn’t pay for unscientific quackery.

      It’s sad that you’ve fallen under the magic of these quacks, and a real treatment for your diseases can’t be found. Spirochetes under a microscope from your own tissue. Sure it wasn’t Morgellon’s Disease?

      • Nat Comstock

        Morgellon’s Disease??? Did you Google that? Lol! However, I do agree about MTHFR!!

        I happen to be working directly with scientists from the CDC, and have tested positive for Lyme each time with Western Blot and Elisa through different laboratories. I have been tested yearly as I am in a study, so I am one of the lucky few that has hard working, dedicated world-reknown infectious disease doctors as well as a pathogist, researchers, and a published neurologist.
        I have wasted my time answering you, but did it in case others read your assumptions and give up looking for an answer.

        • It’s interesting that you do not state whether you took antibiotics to treat the original infection. As for your symptoms, a modicum of research would have found this, from WebMD:

          “What Is the Outlook for People With Lyme Disease?
          Most people with Lyme disease respond well to antibiotic therapy and recover fully. Some people may have persistent symptoms or symptoms that recur, making further antibiotic treatment necessary. If left untreated, Lyme disease can cause permanent damage to
          the heart, nervous system, and joints. (…)

          **The antibody test usually remains positive for months to many years after an infection. **”

          Source: http://www.webmd.com/rheumatoid-arthritis/arthritis-lyme-disease?page=6

          And yes, both those tests you cite are for antibodies, not for the presence of bacteria:

          “The presence of antibodies, however, does not prove that the bacterium is the cause of a patient’s symptoms. The presence of specific antibodies suggests a prior infection, which may or may not still be active.”

          http://www.webmd.com/rheumatoid-arthritis/arthritis-lyme-disease?page=3

          Hope this helps.

          • Nat Comstock

            If you know you were infected by a tick and get abx treatment within 6-8 weeks, you can treat it easily with abx.

            I did not get diagnosed until several years later. I had a 12″ bullseye rash and 4 months later viral encephalitis. I developed a seizure disorder, bells palsy, have systemic nerve pain, cfs, heart arythmia, and many more problems I will not waste my time listing. Before the encephalitis, the bullseye rash became serverely infected and asperated inside my leg. The treatment cleared up the infected leg, but most likely the infected tick went into my bloodstream. Yes, it’s incredible they didn’t diagnose me, as I was at Mass General hospital, It was 1980, and apparently Boston didn’t get the memo.

            I was duagnosed after becoming severly ill in 2003. I can tell you that I do have late chronic neuro lyme. It is in my brain, and I already said I had been diagnosed over and over again. What I didn’t say is that in sept of 03 I went on 9 months of IV abx and followed by oral abx as well as other meds and therapies through Columbia University Lyme Disease Research and Dr. Richard Horowitz, whom you’ll probably now call a quack.

            If I told you I had stage 4 breast cancer which would have been detected earlier self-breast exams, would you say, just do some chemo and chop your bobs off and you should be fine? I read it on WEBMD, here are the links.
            I assume you were trying to be helpful, so thank you for that, but I’m in the best hands possible and do not get medical advice from Webmd.
            I hope you don’t get bitten by an infected tick because my life has been altered forever.
            There is a huge political debate about Lyme Disease, and you are being sucked in by the IDSA’S stance that it doesn’t exist. It has to to with Plum Island, which is closed. I was on Shelter Island when I was infected. When we would take our boat our around Plum Island, there were huge warning signs to not enter.
            Again, you will tell me I’m wrong, but I’m not here to argue. I suggest doing more than a 15 minute google or Webmd search before entering a debate with a sick person. I’m not looking for a remedy.

            • You have brought nothing but anecdotes to convince anyone that CLD is real. CLD myth refuted:

              http://www.skepticalraptor.com/skepticalraptorblog.php/chronic-lyme-disease-myth-reviewing-the-evidence/

            • Nat Comstock

              I’m not trying to convince you. You hide behind an icon thinking you have all-knowing power. I honestly couldn’t give a shit what you think., because you’re a dimwit. Later ……. much

            • “You hide behind an icon” LOL

              Them as throws ad hominems shouldn’t live in glass houses.

            • Nat, you’re simply wrong. If I hide, it’s behind evidence. You bring none, I bring boatloads of it. Or show where it is lacking.

              You want to BELIEVE that CLD exists, for whatever motive it is. But you’re BELIEF lies in quacks and charlatans who are pushing this narrative for profit. For themselves.

              You are being close-minded, in that you want to find only the evidence that meets your preconceived belief that CLD exists. You cherry pick, and rely upon unreliable evidence.

              I am open minded. If the broad swath of evidence supports the hypothesis that CLD exists, then I will change my mind. But that doesn’t mean I will read only evidence that supports the CLD hypothesis, I will read it all.

              However, as of this moment, the broad scientific consensus is that CLD does not exist, at least as an infection caused by the deer tick and the related bacterium. It is possible that CLD could be a resulting auto-immune disease, but that’s not going to be treated by powerful courses of antibiotics. It could be a neurological disorder like chronic fatigue syndrome. The CDC has admitted as much. But there is absolutely no evidence in support of a chronic bacterial infection.

            • There’s no call to respond with hysteria or totally ridiculous exaggerations.

              Perhaps you should calm down, read this and the associated articles https://www.sciencebasedmedicine.org/does-everybody-have-chronic-lyme-disease-does-anyone/ and maybe you will finally conclude that yes, Horovitz is leading you up the garden path and that your problems are not due to what he claims they are.

            • Nat Comstock

              After this post, I am done. education for all physicians about the diagnisis and treatment as well as complexities of Lyme is sorely needed. People throwing links around from WEBMD can cause a person to not understand that each diagnosis is different. Ticks carry different variants of the disease, which is why many go undiagnosed as the test is created for one particular strain of Bb. One if the problems with persistent Lyme disease is cognitive impairment. I am frustrated, but not with you. I am extremely fortunate to have been accepted into a study that started at Columbia with Dr. Brian Fallon. Now I’m a test subject as well as patient of medical team with the Lyme Research Alliance, and we are very excited about :
              Ying Zhang, M.D., Ph.D.
              Johns Hopkins Bloomberg School of Public Health
              A New Treatment Regimen for Persistent Lyme • Dr.
              Zhang has discovered a new use for Pyrazinamide (PZA),
              which for many years was used to treat tuberculosis. Dr.
              Zhang will assess the activity of PZA against “persisters,” Bor-
              relia that become tolerant to antibiotics yet later rebound to
              start a new wave of infection. He will then test compounds
              singly, and in combination with PZA, to find an optimal treat-
              ment regimen for patients with chronic Lyme disease.

            • Brian Fallon is a psychiatrist and therefore completely out of his field here. Or is he trying to study the long-term cognitive effects that may occur after the Lyme’s infection has been treated? It certainly doesn’t vaildate your claim for chronic Lyme’s.

              The Lyme Research Alliance itself warns that ticks can transmit more than one disease at a time and that a Lyme infection can mimic or mask other infections. This is often the error chronic Lyme believers fall into.

              Ying Zhang’s story doesn’t add up. Why has he dropped all the “promising” antibiotic leads to conentrate on an antibacterial agent known only for its effect on TB *in conjunction with antibiotics*? And why is he treating a disease that he has no evidence exists?

          • CLD has become a major profit center for lots of quacks, ND’s, homeopaths, and other people.

        • Yes, I know what Morgellon’s is. It’s the same level of quackery as Chronic Lyme Disease, that was my point.

  • Pingback: MTHFR Gene Mutations: What You Need to Know | Care2 Healthy Living()

  • Kathy

    Gawd, I just found out Lynch lives in the same town I do. Sigh.

    • Judith

      I am sure Dr Lynch would be horrified. We have had firsthand experience with a relative who has autism. By idientifying the MTHFR genetic mutation we discovered he could not assimilate folic acid which is synthetic and not at all the same as folate. He had methylation issues and was not able to detox heavy metals. As a result he developed allergies, food intolerance, withdrawn and strong autistic behaviours. Methlfolate, methyl B vitamins, addressing gut flora issues, food allergies and detoxification has resulted in a child that has has recovered to being able to socialise and is almost normal and continuing to make progress. All of this is addressed by Dr.Lynch, Dr. Amy Yasko and others. The alternative? go to a normal GP and be prescribed drugs – the child would have continued on a downward slope..scary to contemplate.

      • Kathy

        Or, the child outgrew the food sensitivities and his parents wasted a ton of money on tests and supplements that are not covered by insurance.

  • Shelbie

    I’m homozygous for the C677T variant. I think you need to do your research.

    My board-certified fertility specialist explained to the difference between folic acid and folate. And how my higher risk of blood clots caused me to have 2 miscarriages at 12 weeks because clots formed in the placenta.

    You just like to cause trouble. I’ll be listening to my doctor, not some nobody on the Internet who writes controversial blogs just to get attention.

    • “My board-certified fertility specialist explained to the difference between folic acid and folate.”

      Then they will have explained that you need higher doses of folic acid ,to produce enough folate for your body.

      Here’s the American Heart Association’s Patient Page (still pretty technical, mind) on the subject http://circ.ahajournals.org/content/111/19/e289.full

  • whyser

    What about this study that shows how metals can inhibit methionine synthase?

    Activation of methionine synthase by insulin-like growth factor-1 and dopamine: a target for neurodevelopmental toxins and thimerosal (http://www.nature.com/mp/journal/v9/n4/full/4001476a.html)

    “The recent increase in the incidence of autism has led to the speculation that environmental exposures including vaccine additives (ie aluminum and the ethylmercury-containing preservative thimerosal) might contribute to the triggering of this developmental disorder.”

    “Our studies also provide evidence that ethanol, heavy metals and the vaccine preservative thimerosal potently interfere with MS activation and impair folate-dependent methylation. Since each of these agents has been linked to developmental disorders, our findings suggest that impaired methylation, particularly impaired DNA methylation in response to growth factors, may be an important molecular mechanism leading to developmental disorders.”

    “Aluminum salts are used as vaccine adjuvants, based on their ability to improve dendritic cell response to presented antigens. The aluminum content of vaccines varies from 0.125 to 0.85 mg/dose, which would produce concentrations of approximately 0.7 to 4.5 muM, if uniformly distributed in the body water of a 7 kg infant. These concentrations produce greater than 50% inhibition of both IGF-1- and dopamine-stimulated methylation, raising the possibility that aluminum concentrations produced by vaccination might adversely affect methylation events. In light of the importance of MS in regulating DNA methylation and the central role of DNA methylation in development, we propose that metal exposures, including lead, mercury and aluminum, may contribute to developmental syndromes via their inhibitory effects on signaling pathways that regulate MS activity.”

    I thought their results were quite interesting.

    • I think it interesting to see how you use a discredited scientific article from 2004 to further your own agenda.

      -” recent increase in the incidence of autism”

      Autism was first described fairly recently and the diagnostic criteria have evolved even over that short period. There is no increased incidence: we are better at diagnosing the condition and have widened the definition to include more people on the spectrum.

      -“the vaccine preservative thimerosal”
      Thimerosal hasn’t been used in the US since 2001, thanks mostly to uninformed hysterical lobbying from the Wakefield fan club. The paper is dated 2004, the year the Lancet published a partial retraction of Wakefield’s fraudulent paper.

      These two phrases alone show the whole thing to be an antivaccine exercise wrapped up in pseudoscience. And indeed, I see the same core team are *still* churning out antivax rants to this day.

      • whyser

        oh was it discredited? I didn’t know that. The paper didn’t have “retracted” or anything on it, could you show me where/why it was discredited?

        “Autism was first described fairly recently and the diagnostic criteria have evolved even over that short period. There is no increased incidence: we are better at diagnosing the condition and have widened the definition to include more people on the spectrum.”

        That’s not true, the Diagnostic and Statistical Manual for Mental Disorders (DSM) had multiple revisions and was used to diagnose autism. The DSM version that was active during this study and during “Wakefield’s study”, was DSM IV, back in 1994. The latest revision, DSM V, was in 2013, so almost a full 20 years. I would agree with you that better diagnosis and widening the definition would increase the numbers, but I would assume that it would happen around the time of the DSM revision, and some years after that…. but not almost 20 years of the same diagnostic methods.

        “Thimerosal hasn’t been used in the US since 2001, thanks mostly to uninformed hysterical lobbying from the Wakefield fan club. The paper is dated 2004, the year the Lancet published a partial retraction of Wakefield’s fraudulent paper.”

        I agree with you mostly on that point, except that the multi-dose influenza vaccine still contains thimerasol. About 1/3 of the influenza vaccines produced in the US are multi-dose vaccines.

        You didn’t have to resort to name-calling in attempts to discredit my earlier response, because you didn’t really disprove anything. I am awaiting your evidence for that paper being fraudulent (I didn’t realize that it could have been, but willing to entertain that it is possible), and for evidence that heavy metals do NOT affect the methionine/folate cycles, to refute the statements made in the paper.

        • “I am awaiting your evidence for that paper being fraudulent”
          Funny that: it is common knowledge and is why Wakefield lost his medical licence in the UK. Permanently.
          http://www.bmj.com/content/342/bmj.c7452

          Science to date:
          Multi-use influenza vaccines have nothing to do with MMR. Thimerosal is known to be safe in the minuscule quantities used and does not build up in the body. It does not cause heavy metal poisoning.
          Autism is almost certainly mostly genetic, and any environmental triggers do not include vaccines.

          • whyser

            Hold on, I thought we were discussing the merits of nature.com paper, not of Wakefield’s paper. I was expecting you to show me that the nature paper was discredited, I’m still awaiting that.

            As for the editorial you linked:
            http://www.bmj.com/content/342/bmj.c7452

            There was also a correction to the article regarding the competing interests. While Fiona Godlee and authors “declare: no support from any organisation for the submitted work; no financial relationships with any organisations that might have an interest in the submitted work in the previous three years”

            There was a correction on the article
            http://www.bmj.com/content/342/bmj.d1678

            “The BMJ should have declared competing interests in relation to this editorial by Fiona Godlee and colleagues. The BMJ Group receives advertising and sponsorship revenue from vaccine manufacturers, and specifically from Merck and GSK, which both manufacture MMR vaccines.”

            In any case, the editorial article certainly has some bias, and since sites like these are all about credibility, it seems like both sides are questionable.

            As for the thimerosal discussion, you indicated earlier that “Thimerosal hasn’t been used in the US since 2001”, of which I was merely pointing out that it wasn’t true.

            http://www.cdc.gov/flu/about/qa/vaxsupply.htm

            “For this season, manufacturers have projected they will provide between 171 to 179 million doses of vaccine for the U.S. market”

            “Approximately 116 to 118 million doses of thimerosal-free influenza vaccine will be produced for the 2015-2016 flu season.”

            which means that there is approximately 60 million multi-dose vials of influenza that contains thimerosal.

            While I agree with you that thimerosal is mostly removed from vaccines, it is not removed from ALL that’s available.

            You then switched your debate tactic to deny that multi-dose influenza vaccines and MMR are related, of which I made no claim, and how thimerosal is safe in miniscule quantities. You’re all over the place.

            We can discuss the merits of your claims in another discussion. I am awaiting a response regarding autism diagnosis with DSM and whether or not the nature paper was discredited.

          • whyser

            – “Autism is almost certainly mostly genetic, and any environmental triggers do not include vaccines.”

            Though I agree that part of the answer is genetic, I would not say that is the entire reason.

            Check out this paper

            Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits.
            http://www.ncbi.nlm.nih.gov/pubmed?Db=pubmed&Cmd=ShowDetailView&TermToSearch=23608919

            “Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors”

            Identical twins having different severities in autism has pointed out that the factors could also be environmental.

            “…we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort”

            To me, this is where you start looking. If you understand the biomarkers of autism, you will find that the MAJORITY of them are related to the methionine/folate cycles, and their glutathione levels (relating to Skeptical Raptor’s handy little image on the cycles relating to MTHFR in his above article). The Transulfuration pathway that generates “proteins” is extremely important, as it is the pathway that leads to the production of the body’s master antioxidant, glutathione.

            It is well established that people with autism have high oxidative stress, that they have lowered glutathione levels, increased homocysteine levels, and lower methionine levels. ANYTHING that can negatively AFFECT the folate/methionine cycles and glutathione production is an INCREASED risk factor in autism.

            That is why males are more susceptible to autism than females

            http://www.autism.com/pro_research_oxidativestress
            “It is well-established that females have lower homocysteine levels than males….Estrogen has been shown to increase plasma glutathione levels in a dose-dependent manner in experimental animals. By enhancing the activity of glucose-6 phosphate dehydrogenase, estrogen supports the regeneration of reduced glutathione from NADPH and increases antioxidant potential 38. Mitochondrial glutathione levels and antioxidant capacity have been reported to be higher in females than in males. Taken together, the evidence suggests that both cellular methylation capacity and antioxidant activity are higher in females than males”

            Or another example, how they are able to link tylenol with autism:

            Prenatal and perinatal analgesic exposure and autism: an ecological link
            http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673819/
            “Taken together, these ecological findings and mechanistic evidence suggest the need for formal study of the role of paracetamol in autism.”

            How is Tylenol implicit in this? The ecological study above did not speculate, but this could be a clue:

            Understanding Acetaminophen Poisoning
            http://www.sciencedaily.com/releases/2002/10/021014072451.htm

            “When a person takes acetaminophen, the liver produces small amounts of a potentially harmful compound called NAPQI (N-acetyl-p-benzoquinone imine). Normally, the liver uses another chemical called glutathione to quickly neutralize NAPQI.

            “The problem occurs when you run out of glutathione,” said Moore.

            An overdose of acetaminophen can cause depletion of glutathione and land a person in the hospital. “Acetaminophen toxicity is the number one cause of hospital admission for liver failure in the United States,” he said”

            Again…. this is going back to methionine/folate cycles and the ability to produce glutathione. If you do enough research on biomarkers of autism, you will find that ALL things implied to be related to an increased risk of autism is associated to theses things, including the topic of this article, MTHFR, including heavy metals (I can give you studies showing how aluminum impairs these cycles), including genetics (I can show you other genes mutations that directly affect these cycles).

            Attempting to associate autism as a “genetic” only disease is not helping anyone get closer to the answer… I strongly believe that if we are able to insult our natural ability to deal with environmental toxins that affect our methylation and ability to have sufficient glutathione production, we are increasing the risk of autism. And yes, vaccines can be part of it (I said it).

            • The population number was tiny. And the data has not been repeated. This is called “primary research” and is deprecated in any conversation about scientific evidence. Call me when there’s meta reviews that confirm this “hypothesis.” And quit cherry picking. It’s fucking boring.

            • whyser

              You’re not very specific in your rebuttal. I have no idea what you’re referring to.

  • Pingback: Review of Trace Amounts – bad science and conspiracies()

  • Derek Wong

    I enjoyed reading your article and I have a few comments.

    First, you need to distinguish between a mutation and a polymorphism. There are many people who have polymorphisms in the MTHFR gene (C677T, A1298C) that reduce the level of enzyme but not to a dangerous level. These polymorphisms have been debated as a cause of various health ailments. See here for some of the latest evidence:

    http://www.nature.com/gim/journal/v15/n2/full/gim2012165a.html

    Most of the studies show that the polymorphisms are not dangerous. If a pregnant woman has had a child with a neural tube defect, they are put on high doses of folate pre-conceptually to reduce the risk of a second child with the same disorder. If I were pregnant and I knew I was homozygous for the polymorphism, I would take extra folate to reduce this risk in my fetus.

    The MTHFR polymorphisms were indeed studied in the paper you cited. The incidence of fever and rash were increased in the MTHFR group. There was no report of serious adverse reactions.

    In summary, I would disagree with #1 in that MTHFR polymorphisms have never been shown to be a serious problem if untreated. You can argue that the increased incidence of neural tube defects is a serious issue, but I am not sure you were referring to that.

    The second comment has to do with patients with true MTHFR deficiency. These people have a very reduced activity of the MTHFR enzyme. They usually have two significant mutations, not polymorphisms. These conditions are very serious and if severe enough can lead to death in the first few weeks of life. Fortunately, newborn screening is becoming available in several states and will likely be available in the entire US in the near future.

    http://www.ncbi.nlm.nih.gov/pubmed/25856670

    FYI I am the first author on the paper but I am sure that you will verify my statements independently. In any case, these patients are very rare and it is not easy to treat them. However, your article really does not concern these individuals.

    The rest of the article is pretty much spot on.

    • If you’re going to insult me by assuming I don’t know the difference, we’re not going anywhere.

  • rebeccagavin

    A nurse practitioner talked me in to having some genetic testing done to see what psych meds I should respond to and/or not respond to. I wish I had said no, but I didn’t have my laptop with me to read up on it. The thing is, I have been on a very successful regimen of meds for years, and it turned out that I do have this genetic defect, and she told me that I could not take Folic Acid and had to buy Methylfolate, which I now find out it bullpoo. Providers should really think long and hard about their relationship with patients when they give credibility to things that aren’t credible. Now, I do not trust her judgement as much as I did before, and I hope I don’t get a bill for a co-pay because that might make me cranky.

    I should add that the reason this caught my attention is because i take Methotrexate for Psoriatic Arthritis and am prescribed Folic Acid to combat side effects. So I immediately became concerned and she echoed my concerns for no valid reason.

  • Pingback: An Unqualified Mother’s opinion of Autism Treatments | helpfulhev()

  • Sarah Adams

    Folate and folic acid are NOT one and the same.

    I work with a medical doctor. A psychiatrist. He found that I have two gene mutations — compound heterozygous. From the ages of 13-39, I’ve suffered horrible depression that no antidepressant would touch. A few months ago, my gene mutation was discovered, and Deplin, which is FOLATE (folic acid is poison to one with this mutation) has changed my life. Anxiety, depression, OCD — gone.

    Read up on more research now that time has passed since this ridiculous post. SCIENTIFIC research. I am no naive hippie. This shit is real.

    • kellymbray

      Name the specific gene mutations that you have. Is the psychiatrist a holistic psychiatrist?

      • Sarah Adams

        As I said twice, I’m compound heterozygous for MTHFR mutation. Again, my shrink works at River Region Psychiatric Associates and, again, is not at all a naturopath. You’re free to call them and enquire. Millennium Labs did my DNA testing and I’d be more than happy to share the results. Has doctor info on it, too.

        • Sadly, your doctor’s website has disappeared. In any case, no ethical medic or bio lab would share patient info over the phone to a complete stranger.

          If you’re so keen to share the results, pray do so.

          If you have evidence that the folic acid given to people with MTHFR mutation(s) is useless, then produce it

      • Rolling on the floor laughing! LOVE IT

    • Here we go with that old myth. Folic acid is the acid form in solution. In solution, it disassociates into hydrogen ions AND folate ions. Folate.

      Folate is the the ion of folic acid. If you understood basic chemistry, you’d understand this.

      And anecdotes are USELESS to me or anyone in real science. Without access to your medical records and knowledge of what a real doctor said, I have no clue. You could be lying. You could THINK you got better. Whatever. That’s why anecdotes are deprecated.

      • Sarah Adams

        Please do research on folic acid vs folate. Folic acid does not cross the BBB as folate does for people with methylation issues.

        My doctor is Dr. Vemuluri at River Region Psychiatric Associates. He is in now way involved in naturopathy and discouraged the usage of any health food store supplements.

        I do not THINK that I am doing better. I was 13 when I began antidepressants. None ever worked. I am now 39. I dos NOT expect Deplin to do a thing to me. No hope. Yet here I am, a thousand percent better. It has saved my sanity.

      • ferz

        Actually, it depends on what you are talking about, when you say folic acid. “Folate” and synthetic folic acid can exist in solution simultaneously. Folic acid is water soluble.

        Although folate is in fact ionic, for *synthetic* folic acid to be used by the body, it must be converted by dihydrofolate reductase to tetrahydrofolate.

        The term “folate” includes a variety of different molecules, with a variety of one carbon substitutions and different states of reduction of the pteridine ring.

        You don’t simply drop folic acid into a jar of water and suddenly it magically turns into “folate” ions (whatever it is that you mean by that term).

        http://pubchem.ncbi.nlm.nih.gov/compound/folic_acid#section=Top
        http://pubchem.ncbi.nlm.nih.gov/compound/folic_acid#section=DrugBank-Interactions (Absorption/Distribution/Metabolism)

  • Dan

    Being a Doctor is no excuse for ignorance

  • drnutsandbolts

    Excellent article. As a GP of 30 years we constantly hear and read of rubbish, which our more gullible, naive and uneducated patients read about (using their science based computers and internet), which all deny the value of science and study.Bizarre in itself. The fraudsters then try to sell products (conflict of interest) produced and sold by the most unregulated industry in the world (herbals) which are known not to contain the herbs and spices they claim are in them. In fact most effective “herbal” drugs actually don’t contain herbs, they are illegally selling prescription drugs (silbutramine, steroids, PDE5Is, etc etc.) The herbs and spices account for about 1/4 of all liver disease in the Western world. Many eg Vitamin E , are carcinogenic (SELECT study abandoned). The evidence base on this subject is , to date, indisputable. It doesn’t cause problems in the vast vast majority, and possibly in none.To the Alternative zealots: Eat a healthy diet, low carbs and fat, high cruciferous and legumes and oily fish, nuts, olive oil etc. Exercise. Ideal weight/waistline. And maybe get an education, if you really think you can be doctor by reading herbal websites, Better still, try something simple, like rewiring the house while the power is on, it’s a million times easier than medicine, and will save you more money. Might help Darwin too. Thanks again, balanced and infromative article.

  • JJ

    Thanks for the informative post. I had a nutritionist (not RD) tell me that if you have had this mutation that you could only take special folate supplements and not (cheaper and more common) folic acid supplements. The reasons were that the folic acid form does not work for these people and just builds up in their system doing harm.

    This is woo, correct?

    • CoveyCat

      My understanding of it (*though I could be wrong*), is that with certain MTHFR mutations, the body is unable to turn folic acid from supplements into folate via methylation, so a person with the mutation would have to take folic acid that was already methylated (methyl-folate), which is a special supplement you can buy (methylated B12 is also available). But I think they can still get folate from sources where it naturally occurs, b/c it doesn’t have to be methylated. I *think* that is correct based on the research I’ve looked at, but will defer to Skeptical Raptors expertise on the subject 🙂

    • PF

      Yes, woo. People with this mutation almost never completely lack the ability to process folic acid into folate, they’re just not as efficient at it. So they require a higher dose in order to maintain appropriate blood levels.

  • Richard Sanchez

    Natural selection.

    • You’re now banned. Not only are you offensive, homophobic and ignorant, you haven’t a clue about evolution.

  • Sandy Perlmutter

    MTHFR? It will be hard to forget this one. Happy Mothers Day, MTHFR!

    Forgive me, couldn’t resist. Very good article as usual.

  • Richard Sanchez

    Skepticism is your RELIGION AND BELIEF SYSTEM.

  • Richard Sanchez

    DO A SCIENCE EVANGELIST VIDEO LECTURE,YOU IDIOT. DO IT TOTALLY NAKED FOR US

    WE ALL WANT TO LAUGH AND LOOK AT YOUR “SCIENCE BASED COCK”….

    . YOUR READERS DEMAND IT. HONOR THEIR WISHES OR SHUT YOUR SITE DOWN….

  • Richard Sanchez

    GO SHOVE YOUR TINY COCK UP YOUR ANUS HOLE FROM THE FRONT,LOSER.

    • Ah. The homophobic comment. With cap letters. Impressive.

      • Josh

        “How could any argument stand up to the remarkable insight of ‘GO SHOVE YOUR TINY COCK UP YOUR ANUS HOLE FROM THE FRONT’?” -Charles

        • I usually delete this crap, but sometimes we have to let the comments of the ignorant and uneducated shine fully on themselves.

  • Richard Sanchez

    Post YOUR PICTURE TOTALLY NAKED, SkepticalRaptor, you small penised science nerd

    • More cap letters and homoerotic statements. Still not very impressed by your lack of civility, intellect or open-mindedness.

  • Richard Sanchez

    Chronic lyme disease DOES EXIST. I know many physicists who laugh at your blog. Stop being so stuffy about science and exploiting it.

    • Your historical revisionism is quite amusing. And with caps still.

      I know many scientists who like key lime pie. Checkmate in the random word chess.

  • CoveyCat

    Thanks for this article. I’ve recently been tested for MTHFR mutations because of another genetic disorder I have, and a clotting disorder. The way my doctor explained it was that it could be (somehow?) impairing my ability to absorb nutrients from food, as I am regularly deficient in several vitamins and minerals (B vitamins, vitamin D, magnesium, iron, folate, etc.) despite eating a balanced diet. Can you clarify, besides folate and homocysteine, does the research suggest that MTHFR mutations have any impact on absorption/utilization other things in your body, like B12, vitamin d, magnesium, etc? There’s so much misinformation out there, it’s nice to just have an unbiased opinion about the literature. I am experienced at actual research (working on a thesis), but I’m afraid in researching this I’d have difficulty being unbiased, as I want answers for my health issues, and MTHFR seems convenient to blame it all on. The critical thinker in me knows it’s not that simple, but the sick person in me wants to feel better. Thank you again!

    • Vitamin B12 and folate are closely related in structure, and they work on a mutual feedback mechanism irrespective of the MTHFR gene. Excessive folate may reduce vitamin B12 absorption, which is not a direct result of MTHFR gene mutations, but in the level of treatment.

      I think today, when diagnosing and treating MTHFR mutations, real physicians test for both folate and B12 levels.

      The interaction between the two is quite complex, so it might effect other micronutrients, especially iron. The body has an excellent physiological feedback system, so raising folate could impact how B12 and iron are absorbed (though the mechanism is not known). But again, at this point, there is little evidence that the MTHFR gene directly impacts iron or B12, but the treatment of MTHFR mutations might. It’s a matter of control.

      I found nothing about vitamin D or magnesium, but those really are independent of MTHFR mutations (unless I missed something recent).

      Also, there are numerous ways the MTHFR mutation is expressed. Depending on the mutation and whether you’re hetero- or homozygous for the mutation could mean a wide range of potential effects.

      There are a lot of quacks trying to make money off of this. Trust your physician, and demand to see a specialist, maybe an endocrinologist or something similar (an MD that specializes in it, there are many). They can help fine-tune your diet, supplements, and other evidence-based treatments.

      • CoveyCat

        Ok yes that makes sense about the folate-b12 relationship. It was my GP who ordered the test, and I don’t know what mutation (if any) I have, but I think I will ask for a referral, opposed to letting my GP decipher the results. I think she understands it a bit, but she was describing how it could effect magnesium/vitamin D, which, like you, I also found no literature on.
        Thanks again for your response!

      • kiannafleur

        This sounds like what’s being shared in forums on Tourette Syndrome — vitamin replacement therapy for magnesium deficiency and low levels of B vitamins; the debate between folate and folic acid; the caution against taking regular supplements and advice to take methylfolate; MTHFR mutation — and now, the latest is from a mom who insists her 6 year old got TS from a DTaP vaccine “because that’s when his symptoms started and there’s nobody in the family who has it so his TS isn’t genetic,” [TS is genetic], and he tested positive for the MTHFR mutation, and these are somehow linked because the MTHFR gene is “responsible for getting rid of toxins in the body.” I’d never heard of MTHFR mutation until joining the TS forums, though I’m a teacher of special ed and am at least somewhat familiar with a number of mutations that are involved in special needs. I understand the desperation that leads parents to seek holistic oils and herbs, especially since few paid attention in science class in the primary grades. No wonder there’s so much misinformation being shared by word of mouth — and there is mistrust of “mainstream” science and medicine, ironically because it’s a moneymaking business (as is the snakeoil industry). I’m trying to find reliable information on TS, but the research trails run cold — there is so little known. Maybe there is a connection to the MTHFR mutation, although as a comorbid, not a cause (keeping in mind that a syndrome is a condition with at least one specific symptom present in every case, with multiple other symptoms *possibly* present). I’m disappointed that a search for TS and MTHFR brought up a blog as the second result, and an unscientific forum as the first result. At least the blog has directed me to reliable research – I got lucky this time. If you’re aware of any TS research (and myths to dispel), I’d be very interested in it.

  • Beth

    Thanks for this. I learned of my homozygous C677T status after a bad reaction to nitrous oxide recently (it messed with my b12). I am normally healthy, enjoyed three uneventful pregnancies, have three healthy children, and have just stumbled out of the MTHFR madness currently on-line. My homocysteine is good, my folate levels are good, and I’m good with a balanced diet and … balanced research.

  • Josh

    Thanks for the great article (as always). I was actually ordered a genetic test by my MD a few weeks ago as a follow-up for some gastrointestinal issues that took over a year to get resolved, only to find I was homozygous AA (inverse TT) on MTHFR-C677T. While I didn’t think much of it (and spent the rest of my day playing around with a neat piece of software called ToxTree), my mother found the news very disconcerting–causing her to do some “research” on the mutation. Long story short, after joining the Facebook support groups, reading “””””medical””””” blogs, and even having a long conversation with Lynch himself (who I had an extremely difficult time not wanting to punch in the face liking); she wound up an uncosolable, depressed, paranoid wreck unable to discern evidence-based medicine from the mountains of lies spread by these so-called “MTHFR-infected” individuals. Chance would happen that I stumbled on this article today; and for the first time, she seems to be feeling a bit better and is starting to work through the mountains of deceit with me.

    Although I am curious about one thing…what does the research say about MTHFR polymorphism and nitrous oxide as a anesthetic? I only ask because of anesthetic complications during a fairly-recent wisdom-tooth extraction.

    • Punching in the face is a typical response to ignorance and quackery. 🙂

      There’s a lot of information about MTHFR mutations (not all of them, just some) and nitrous oxide (NO) anesthesia. Apparently, through an undetermined mechanism, NO causes an increase in homocysteine levels in the blood, that cannot be stopped by folate. NO anesthesia can sometimes be an indicator of the MTHFR “infected” (that’s just plain awful terminology) individuals. Anesthesiologists need to be informed of the MTHFR mutation so they can change the anesthetic regime.

      Don’t be discouraged by the MTHFR mutation. It can be treated. And it can managed. It’s not a death sentence. It’s more like diabetes–manage it, and you’ll live a long life.

  • justaparent2

    This is always interesting for me and it hits home. This has to do with the disorder my nephew has with processing proteins and has to limit his protein intake. I can say my nephew is much like my son who has autism. He does have delays, but none of the typical autism signs. Both my brother and his GF carry the gene and passed it to their son. We just don’t know which side of the family carries it, and who of us siblings carry it. But for my nephew, both parents had to have the gene to pass it on. My brother and his GF had no idea they carried this, nor ever had any health issue prior or to this date. They have 1:4 chances of future children having this disorder. I think the relation might be it’s the body’s primary antioxidant and detoxifier and those with this have low glutathione which would make these people susceptible to stress and less tolerant to toxic exposures. There is treatment if you have MTHFR mutation. With what my nephew has the disorder is inherited in an autosomal recessive pattern, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. But their children will if both parents pass this to their child. My nephew is the first child as a newborn, in the nation to be tested at birth and found to have this disorder. Our state started testing for it right after birth. They’ve never had a child as an new born diagnosed. Most times they realize a child has what he has is at autopsy and death due to stroke by the age of 3 if not sooner. So the treatment they’re doing for my nephew will one day help others tested at birth and found to have this. I could see a child like him having a genetic disorder being a child who shouldn’t have vaccines, but he’s never had any adverse reactions or regressions after vaccines. He’s soon to turn 7 years old.

  • Sullivan ThePoop

    I am so glad you wrote this. Everyone on the internet claims their child has a MTHR gene mutation and they cannot handle anything because they cannot methylate anything. The stupid really burns.

    • kellymbray

      Everyone seems to want to get on the band wagon. Among the antivaxers the shedding meme is fading. the fetal DNA meme is still going, I will bet the MTHFR meme will be next.

      • It already is starting to take shape. That is why I had to write about it.

    • Thank you!