Health Problems Linked to MTHFR mutations

Mutation Sounds So Serious and Certain – Can I Change This?

I use the term “mutations” or “mutant” mostly because I like them. MUTANT sounds so very X-men and god knows I’m a sci-fi geek. Technically, the correct term is “polymorphisms,” which is less dramatic and doesn’t imply eyeball laser beams. Polymorphisms are simply small differences – one letter substitutions – in a gene. SNP (Single Nucleotide Polymorphisms, pronounced “snip”) are part of the wonderful and astounding variability of human genetics.

SNPs or single nucleotide polymorphisms are essentially a letter substitution in your genetic story. Like the difference between “Tom is tall” and “Tom is fall”. This is why there are health problems associated with MTHFR mutations.

According to the National Institute of Health, SNPs occur in our DNA almost once per 1,000 nucleotides. Since we have over 3 billion nucleotides (or base pairs) in the human genome, this means the average person has somewhere in the neighborhood of 4-5 million SNPs. That’s a LOT of “mutations.”

The vast majority of SNPs don’t have any impact at all, but as we discussed here, some do. I am, of course, referring to the magic chair that is the MTHFR enzyme.

Health Problems Are Linked to some MTHFR SNPs Because They Change the “Magic Chair.”

If you have no idea what I’m talking about, check out last week’s post here. The basic idea is that the MTHFR polymorphisms C677T and A1298C are actually consequential because they change the shape, and therefore the function, of the MTHFR enzyme in one of the most important chemical pathways in our body, the methylation pathway.

MTHFR mutations that matter are A1298C and C677T

Quick and Dirty List of Health Problems Linked to MTHFR

These health issues have been linked to MTHFR in at least one high-quality study (a great database of relevant studies is here for C677T and here for A1298C):

  • Midline Abnormalities: neural tube defects, anencephaly, spina bifida, cleft palate, cleft lip, tongue-tie, facial asymmetries.
  • Cancer: including breast, lung, brain, stomach, head and neck, thyroid, bladder, leukemia, and kidney.
  • Cardiac disease: including thrombosis (increased tendency to clot), deep vein thrombosis, high homocysteine levels, pre-eclampsia (high blood pressure in and around pregnancy), vascular dementia, glaucoma, heart murmurs, stroke, pulmonary embolism.
  • Fertility issues: including miscarriages or multiple pregnancy loss, placental abruption, low sperm count, history of children with birth defects.
  • Neurological issues: including migraines, autism, ADD/ADHD, Parkinson’s disease, Alzheimer’s dementia.
  • Mood and Psychological issues: including anxiety, depression, obsessive-compulsive traits or tendencies, bipolar disorder, and schizophrenia. Also, reduced reactions to certain medications like SSRIs for depression, and increased tendency toward addictions.
  • Miscellaneous Conditions: including chronic fatigue, fibromyalgia, and numerous autoimmune disorders.

Symptoms That Could Be Linked to MTHFR

Outside of the slightly scary list of diagnosable illnesses and health problems linked to MTHFR, there are also a number of symptoms that are highly associated, but don’t really warrant a diagnosis (at least not until they reach an unmanageable level). These include:

  • Brain fog
  • Irritability
  • Obsessiveness
  • Workaholism
  • Sleep Issues
  • PMS
  • Difficult menopause
  • Food sensitivities
  • Chemical sensitivities
  • High levels of seasonal allergies
  • Attention issues
  • Anger and aggression
  • Gallbladder sludge and stones
  • Heart racing
  • Depression
  • Edginess
  • Headaches or migraines
  • Moodiness
  • Joint and muscle aches
  • Itching skin
  • Obesity or easy weight gain
  • Carb and sugar cravings
  • Sweating
  • Feeling “not right”
  • Addictive tendencies

Does Having MTHFR Mutations Mean I Have These Issues?

Nope. Just like having these issues doesn’t mean you have an MTHFR mutation.

So… What Does It Mean?

It means if you have any of these issues (which, honestly, most people do have at least one), then managing your MTHFR and methylation cycle in a proactive way can help you feel better, reduce your symptoms, reduce sensitivities, and hopefully prevent MTHFR-related disease in the long-term.

What IS This Witchcraft?

It’s called “epigenetics” and it is a field that has emerged in the last couple of decades as we learned how many genes really are actionable. Epigenetics is the study of the way diet, lifestyle, nutritional status, drug use, chemical exposure, self-care, and external factors influence the expression of your genes.

This video explains epigenenetics and also gives a bonus introduction to why the methylation pathway is so important to gene expression (do you see all those methyl groups?!?)

Help! I’m Drowning in MTHFR Doom!!

It can feel a little bit overwhelming – especially if you’re like me and can listen to the giant list of symptoms and find more than five that match up with issues you have in your own life. The good news is that YOU CAN TAKE CONTROL. You hav e the power, thanks to epigenetics, to change your state of health and the severity of these symptoms. Also, here’s some great news:

MTHFR Superpower – Speed and Strength!

It’s no eyeball laser beams, but it’s a start. It has been suggested that DNA undermethylation in MTHFR folks induces muscle growth. A recent study of Russian and Polish athletes found an athletic advantage in sprint-strength type activities for the A1298C polymorphs. Mutants, Unite!

Next week we’ll talk about MTHFR testing options, what the results actually mean. and who should test? Subscribe, so you don’t miss any episodes and pass it on to your grumpy, obsessive, workaholic friends because maybe they’re mutants too…

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What is MTHFR in Simple Terms Anyone Can Understand?

Sure, you’ve heard about MTHFR on the internet, but every link you click leads to complete and utter gibberish. Yeah – I’ve been there. Chances are, I’ve written some of that gibberish. Sorry folks! So here is the simplest, easiest version of the MTHFR story and also, why it matters so much to me.

MTHFR is the name of a gene, which is like a long word in the language in which your body is written. This gene tells your body how to make the enzyme of the same name. Enzymes are essentially magic seats that turn one thing into a more valuable thing. In this case, the magic chair turns a form of folic acid into 5-LMTHF which is the active form that your body uses for everything.

MTHFR in the simplest terms possible – it’s a magic chair.

MTHFR Looks Simple. What Could Go Wrong?

Have you ever sat down in a chair that had a big lump right where your seat wants to be? Well, so has folate. Sometimes when your body copies the long word of a gene, it gets a letter wrong. Usually, that doesn’t matter so much but occasionally, it does. In the case of MTHFR mutations, the ones that matter actually change the shape of the chair.

MTHFR mutations that matter are A1298C and C677T

In Short, MTHFR Mutations Mean A Lumpy Magic Chair.

If your folate can’t sit in the chair very easily, then it is much slower for your body to get any of the party guy, active folate. There’s a long line to get into the chair, but everyone has to wait.

The MTHFR Bottleneck

So Again: What Is MTHFR In Simple Terms?

MTHFR, when you think of it like this, is kind of a glorified folate deficiency, but with plenty of dull boring old folate hanging around. The dull, boring folate just can’t get any time in the chair to turn into party-guy active folate. You’ll notice the absence of crowns and confetti in the above pictures.

Does It Matter That You Can’t Make Party-Guy Active Folate?

The short answer is that it does. We all need active folate for lots of things, including :

  • Gene expression – this is how you turn on or off the genes for other important things, like the gene that kills off cells that could become cancerous.
  • Toxin elimination – your body needs to clean its house regularly and it needs active folate to do it.
  • Neurotransmitter production – to make your serotonin, dopamine, and the other molecules that keep you happy, your body needs active folate.
  • Building babies – if you happen to be making a baby, you need lots of active folates to do it, or there could be problems with the pregnancy or the baby.

Do MTHFR Mutants Make ANY Active Folate?

Yes – thank goodness we do. There are a number of different mutations (we’ll get into that later), and each one has a different impact on how well the magic chair works. But EVERY MTHFR mutant makes some active folate, or they wouldn’t be living.

You Can’t Change Your Genes, So Why Talk About MTHFR?

The BEST thing about the MTHFR mutation is that it’s actionable. With our current technology we can’t change this gene, but by taking simple steps with nutrition, supplementation or prescriptions, and lifestyle you can change the way it affects your health. That is why we’re talking about it – because you have the MTHFR mutation, you have the power to do have a huge impact on your own health.

The BEST thing about the MTHFR mutation is that it’s actionable. By taking simple steps with nutrition, supplementation, and lifestyle you can change the way it affects your health.

– Amy Nuezil,

Why Does MTHFR Mutation Matter To Me? (Amy – the author)

I’m a mutant too. MTHFR has impacted me in so many ways. MTHFR certainly has had an impact on my resting mental health, my personality, my ability to have babies, and the way I look – I have a facial asymmetry that is likely linked to MTHFR. It also changes some of the conditions that I have to be concerned about in the future – like Alzheimer’s dementia. We’ll talk about all of this in much greater detail in future episodes, but for now, thanks for listening and subscribe if you want to know more. Next week we’ll talk about some of the health consequences that are linked to the MTHFR mutation. Also, for show notes and juvenile drawings of the magic chair, visit me at to health with that dot com. If you happen to have an MTHFR question, you can leave me a message by clicking the link in the show notes.

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THWT! Trailer, and a bonus P.S.A. about Covid-19, from my four-year-old daughter, Sabrina.

Hello, I’m delighted to welcome you to the To Health With That! podcast where we’ll break one BIG health topic, like hypertension, type II diabetes, or this season’t choice – MTHFR mutation, into small bite-sized pieces of ten minutes or less. I’m your host, Naturopathic Doctor Amy Neuzil.

In Season One, we’ll focus on the MTHFR mutation– a topic that is near and dear to my heart. But you, dear listeners, will choose the topics for Season Two and beyond. If you know you have questions about the MTHFR mutation and want me to answer them in the podcast and also play your lovely voices on the air, then go here and click the +MESSAGE button under the logo. Or, you can email me at thwtpodcast at (I’m writing it like that so that I don’t get approximately one million spam emails every 24 hours.) The first episode will air on June 21, just in time for father’s day. Not that it’s so father’s day relevant.

To Health with That! Naturally Healthy In No Time.

P.S.A. On Coronavirus from my 4-year-old daughter, Sabrina.

It’s Sabrina here. I’m Sabrina. I’m talking for the Coronavarirus, but I’m not sure if you can go out. It’s not safe to go out without a mask because if you make one that’s okay and if you buy one that’s okay. But, if you don’t have one and you can’t buy one and you can’t make one, that’s not good–you can’t go to the store. Bye! I’m Sabrina.

This is Sabrina, with a recently rescued chipmunk (rescued from the jaws of our Boxer/Lab, Tiki, no less.
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