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MTHFR Gene abnormality – The funky little gene everyone should know

**Disclaimer-This post is not intended to be an all encompassing description of this condition or potential treatment options, nor am I a licensed physician.  This article is designed for general discussion only.  You should always do your own research on potential health conditions, and find a physician willing to work with you as a partner in the exploration and treatment of any condition you believe you may be suffering from.  See HERE for help on finding the right physician for you.**

MTHFRPlease humor me while I briefly digress from the original point of my article.  I’m not a doctor or a scientist.  I’m not even one for most socially-contrived labels conferred by degrees of higher education (though I hang several of them on my wall).   I’m a Functional Diagnostic Nutrition practitioner, and I like to consider myself a nutritional advocate and a personal health detective.  I believe in the necessity of everyone questioning the status quo and arming themselves with as much knowledge about their own health and well being as possible.  Ask questions, push science to seek out new truths, demand transparency, take action and use what you’ve got between your ears to experiment and take responsibility for your own body.  Sitting around clinging to medical paradigms that have outlived their scientific accuracy will not serve you well.  As you may know from my PERSONAL STORY, I watched traditional medical practices almost kill my father.  Were it not for my family’s persistence and refusal to accept a callous denial of “out-of-the-box” thinking and aggressive treatment, and our own research into his condition and treatment, I would not have had the last 2 amazing years of my father’s vibrant recovery to look back on.  We would have buried him and eventually probably would have marched into that same grave with ignorance and acceptance of the status quo.  I don’t say this to be dramatic or to scare people.  I celebrate this victory of health and hope to spread this message to anyone and everyone who will listen.  I hope to inspire people to take back their health and live their best life, a good, long, healthy, pain free life.  And with that, I hope you find something within this post to arm yourself in the fight for your best life.  To your good health…….

MTHFR – This acronym represents for many people a problem as vile as the slang word it resembles.  Unfortunately, MTHFR mutations rear their ugly heads in numerous ways.  Do you have a family history or personal issues with any of the following conditions?

  • Fibromyalgia
  • Chronic fatigue
  • Irritable bowel syndrome
  • Migraines
  • Bipolar/schizophrenia
  • Austism/autism spectrum
  • Alzheimer’s Diesase
  • Parkinson’s Disease
  • Birth defects
  • Depression
  • Memory loss
  • Insomnia/night sweats
  • Anxiety
  • Heart Attack
  • Stroke
  • Diabetic neuropathy
  • Infertility/miscarriage/high risk pregnancies
  • Fatigue
  • Inability to lose weight/put it right back on
  • Poor physical performance and slow/bad recovery after workouts
  • Poor circulation in hands and feet
  • Low basal body temperature
  • Low libido
  • Menstrual spotting and pelvic pain

If so, you may be suffering from a direct effect of this genetic mutation, or symptoms related to a downstream systemic failure affected by your body’s inability to process crucial vitamins needed for proper bodily functions.

So what on earth is MTHFR?

MTHFR stands for the enzyme “Methylenetetrahydrofolate reductase”.  You can see why most people prefer MTHFR.  Bear with me through a brief scientific explanation of this condition before we break it down into terms that don’t make your eyes roll back into your head.  The concern with this gene mutation is a mistake in the instructions the enzyme follows which slows down or shuts off (depending on the severity of the mutation) the body’s ability to methylate (and therefore make useful) folate and Vitamin B12.   This creates an inability to produce glutathione (the master anti-oxidant and detox processor in the body) and the inability to convert homocysteine which builds up and increases the risk of  blood clots and cardiovascular disease.  Both of these processes require methylated folate and B12 to function properly.

Could this really be you???

Studies have shown that up to 50% of the American population are “carriers” of one defective set of this gene (heterozygous mutation) and 10% have an active form of the condition thanks to a double defective set (homozygous mutation), but I’m guessing you’ve never heard of this crazy gene before.  What’s worse is that numerous mutations of this gene have been identified and many people are burdened with multiple defects (known as compound mutations) which intensify the body’s inability to process the nutrients into a bio-available form.

So how on earth is the system supposed to work and what’s so great about glutathione anyway?

Glutathione is the master anti-oxidant that protects our cells from oxidative stress, free radicals, infections and cancer, as well as supports the liver’s ability to handle detoxification, and is responsible for nerve health, and memory creation and retention. It is created in large part from methylated folate and B Vitamins.  When your body is unable to properly detox, and substances such as toxic chemicals and heavy metals build up in your system, many other major problems (including but not limited to those listed in the conditions section above) can arise as your systems struggle under the toxic burden.  As an example, the toxic load can cause strain on your adrenal glands as additional cortisol is demanded to handle the added physical stressors.  The depletion of cortisol can lead to the stealing of the hormone precursor pregnenalone (commonly referred to as “pregnenalone steal”), which is also needed to produce the sex hormones.  This can lead to a deficiency in sex hormones and down regulation of the thyroid.  Treatment of these conditions can alleviate some suffering, but without discovering the upstream catalyst for these conditions, unfortunately the problems will persist without constant intervention and supplementation.  Supporting the methylation process (as will be explained below) may be the key to realigning all of the systems and supporting the body’s natural rate of function.

What’s more is that these same pathways are blocked due to BPA exposure and other toxic chemicals!  To make matters worse, people are often told to increase their levels of folic ACID (as opposed to what they really need, which is active FOLATE).  Folic acid is a manufactured, non-bioavailable version of folate which needs to be processed by the body to turn it into a usable substance.  For someone suffering with an MTHFR mutation, it can actually be HARMFUL if you take an abundance of the inactive version because someone with these defects has significantly lowered capacity to process the inactive form.  With large doses of folic acid, the inactive form blocks the pathway receptors, so what little amount of active folate you are producing may not be making it to the receptors.  This is WORSE than just having low levels, and the cycle perpetuates itself with damaging chemicals like BPA, which thanks to the low levels of glutathione are unable to be detoxed from the system.  Good lord it’s a vicious cycle!

In addition, certain medications can decrease methylfolate, such as diabetic medications and BIRTH CONTROL PILLS (interestingly enough, some pills now include methylated folate in them for that very reason).  As an added insult to injury, for those trying to lose unwanted pounds, without proper detox support, when you lose weight and you release the stored toxins you have been unable to purge and the toxin level in your blood skyrockets, your body may just stuff those recently released fatty acids right back into the fat cells (and you gain the weight back) because without proper detox protection protocols those toxins will hit your nerves and organs and your body is trying to protect you from that damage by keeping the toxins stored “more safely” in the fat cells  (though still doing serious long-term damage to your body).

Fixing the pathways

The good news is if you correct the pathways and get your body to clear this junk, studies have shown you may improve the symptoms dramatically! People with these defects should discuss with their physician supplementing with methylfolate, the active form of the supplement and should be very wary of anything labeled “folic acid” (this includes foods fortified with folic acid), as well as methylated B12.

Studies are also beginning to show genetic predisposition and environmental toxin exposure also combine in the expression of Autism in children.  I’ve come across research showing various forms of MTHFR mutation in 98% of autistic children.  Improving methylation may improve autism symptoms and hopefully this discovery will lead to significant treatment advances that will greatly reduce the expression of autism in our children and increase their quality of life as they grow up.

What truly breaks my heart is the link with this mutation to infertility, multiple lost pregnancies and birth defects.

There is so much hope in the treatment and prevention of these terrible tragedies with methylated vitamins and detox support, but from my research I have read that most women struggling with multiple miscarriages are not tested for this condition until they have already had numerous heart breaks (not to mention the strain such repeat hormonal fluctuations has on the body).  It appears this test is a last resort “shot in the dark” to try to explain the unexplainable, despite its genetic prevalence in our country.  To say nothing of the impact it has on the child’s physical and mental development – folate deficiency is well linked to neural tube defects, as well as the increasing evidence of its link to autism.  What’s even more incomprehensible is that most insurance companies even cover the test, and it’s only about $150!  Can you imagine having the power to change the course of your health and wellbeing for the rest of your life as well as the health and development of your children for just $150 and not even knowing such an option exists?!?!  It boggles my mind.

In addition, low methylfolate has been linked to low serotonin, dopamine and norepinpherine which can lead to depression and sexual dysfunction.

As if all of that weren’t enough, the other ugly side to this mutation is the body’s inability to process homocystein.

Homocystein is an amino acid and is the natural bi-product of the breakdown of protein.  In a healthy functioning body folate and B vitamins are used to clean up and recycle these bi-products.  If the body is unable to process these precursor vitamins into useful forms, the clean-up function is severely limited and homocystein builds up.  High levels of homocystein have been linked to heart disease, increased blood clotting, heart attacks and strokes.

I know this is a heavy load to carry, and the prospect of 50% of Americans walking around with this serious condition sounds daunting, but please don’t freak out.   If you are worried about what this potentially means for your health if you discover you have this mutation, it only gets BETTER from here.  If your MTHFR mutation was too advanced, you wouldn’t have survived.  Your body has found a way to manage with what you’ve got, and now you have the chance to feed it what it’s been missing, feel better, and live a better life with a lot less symptoms and struggles.

What should you do if you think this is an issue for you?

1. Speak with your doctor about getting tested for the mutation (most insurance companies cover at least a part of it); request a vitamin panel to discover other nutrient deficiencies; homocystein level test; and heavy metals panel.  If your doctor refuses to run such tests, the MTHFR mutation is included on the 23andme genetic test panel.

2. Decrease toxic exposure:

  • Use water filters for drinking, cooking and showering
  • Use high quality, BPA-free glass or stainless steel water containers
  • Exercise and sweat to help clear toxins (3% of sweat is toxins)
  • Consider adding liver detox support to your supplement routine
  • Detox heavy metals if present (be sure to do so under the care of a physician, Functional Diagnostic Nutrition practitioner, or other professional knowledgeable about detox and detox support)
  • Take shoes off when in house
  • Open windows often to air toxins out
  • Microwave food only in glass/ceramic containers
  • Use non-toxic household cleaners
  • Avoid bath and body products with toxic chemicals
  • Wash fruits and veggies before eating and avoid pesticides (see the clean 15/dirty dozen for the worst offenders)
  • Soak regularly in Epsum salt baths as an added source of magnesium, which absorbs directly into the body and helps clear toxins

3. Talk to your doctor about supplementing with methylfolate and methylated B12, as well as N-Acetyl Cysteine, added vitamins C, D and E, DMG, zinc, and Omega 3.

4. Supplement with natural glutathione support such as berries (a natural source of methylfolate), and sulfur-rich vegetables (onions, garlic, broccoli, cabbage, kale, collard greens, and cauliflower)

5. Be your own health advocate and arm yourself with knowledge.  Here are some resources to get you started:

It’s clear that this issue has serious potential consequences and we need to continue to explore this complex process.   More good science needs to be done, and we need to continue to monitor our own health and to ask questions and be our own advocates.  Ask questions, experiment, and see what works best for YOU.

Functional Diagnostic Nutrition is designed to look at the status of the body’s functional systems, locate underlying causes of dis-ease and malfunction, removing blocking factors preventing good health, and support the underlying systems.  If you have experienced problems with hormonal imbalance, infertility, miscarriage, or recurrent pregnancy loss, chronic fatigue, thyroid dysfunction, poor circulation, depression, anxiety, problems with detoxification organs, or any of the other symptoms listed above, functional diagnostic nutrition may be able to help.  Check HERE for more information on our services.



Medical disclaimer: The information and references in this website are intended solely for the general information for the reader. It is not to be used to diagnose health problems or for treatment purposes. It is not a substitute for medical care provided by a licensed and qualified health professional. Please consult your health care provider for any advice on medications.

Photo credit: col&tasha / Foter / Creative Commons Attribution 2.0 Generic (CC BY 2.0)

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  1. As I am reading, not just here but on other sites throughout the day, there is mention of the carrier gene and the active. When you reference all these issues, can the carrier gene be the cause of that? I am positive for A1286C and have struggled with unexplained infertility and a host of other ailments for 8 years. Could that be the cause, or would I need the active mutation?

  2. My 16 year old daughter suffers from being highly sensitive. I will be testing her for the T allele of the c677t polymorphism in the MTHFR gene. Has anyone to know of Deplin?

  3. I have both copies of this mutation. I have had 13 miscarriages. Please please do not suffer through what I did. Have your doctor test you. And start making your own non toxic products!! It will make a world of difference!!

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