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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.

 What is MTHFR in the simplest terms possible - it's a magic chair.
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
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.

MTHFR in the simplest terms possible - everyone is waiting on the magic chair because folic acid is stuck in it.
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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MTHFR is a common genetic mutation that can contribute to anxiety, depression, fatigue, chronic pain, infertility, and more serious conditions like breast implant illness, heart attack, stroke, chronic fatigue syndrome, and some types of cancer. If you know or suspect you have an MTHFR variant, schedule a free 15-minute meet-and-greet appointment with MTHFR expert Dr. Amy today.

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Amy Neuzil
Amy Neuzil

Dr. Amy Neuzil, N.D. is a leading expert in MTHFR and epigenetics, and she is passionate about helping people achieve optimal health and wellness for their genetic picture. She has helped thousands of people overcome health challenges using a simple, step-by-step approach that starts with where they are today. Dr. Neuzil's unique approach to wellness has helped countless people improve their energy levels, lose weight, and feel better mentally and emotionally. If you're looking for a way to feel your best, Dr. Amy Neuzil can help. Contact her today to learn more about how she can help you achieve optimal health and wellness.

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  1. Hi.

    I just found your podcast and it is intriguing. You said something during the first episode about a facial asymmetry most likely linked to MTHFR. I’m just curious to what you are referring? I’ve had two maxillary osteotomy surgeries because of facial asymmetry and other issues. I have a host of other issues that I suspect may be due to this mutation. I know very little about it so I’m researching all I can. So I’m curious bc I’m not the only person in my family to have this facial asymmetry.

    • Hi Erica,
      It is fascinating, isn’t it? MTHFR is strongly associated with “midline abnormalities,” which essentially develop embryonically as the neural tube is folding – there is something similar to a seam down the midline of each human that results from the neural tube rolling into a tube shape and joining at the rolled side. Many of these defects are literally on the midline – things like cleft palate and larger neural tube defects (spina bifida and it’s lesser cousins). The association between these highly-researched abnormalities and MTHFR is clear. Associations with other facial asymmetries haven’t been researched particularly, but I can say that I personally have a strong facial asymmetry (mostly visible in my chin and now that I’m getting some wrinkles, in the bracket folds around my mouth) and I have a far higher proportion of facial asymmetries within my client base (who are largely MTHFR folks) than occurs in the average population. Logically, if the neural tube folding is affected by folate status (which is affected by MTHFR) then it becomes easy to see why this might happen. All of those structures on the midline – that includes brain and skull features (like your sinuses!), nose, chin, potentially eyes and the complex neurological system that feeds them, but also things like esophagus, diaphragm, heart, mouth, and anus. We’re a long way off from the research being done on less-common defects, and bear in mind that there are other genetic factors that could be at play, given that this particular asymmetry is happening in more than one family member, but I do think MTHFR could be a part of your picture and I’ll be really curious to see if you feel like it might apply as you get deeper into the information. Thanks for listening and reading, and keep me posted!

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