What is This MTHFR That I Keep Hearing About?

MTHFR Gene

Are you wondering about this MTHFR gene that everyone seems to be talking about?

As part of this health jaunt I have undertaken over the past couple of years, I was diagnosed as positive for the MTHFR gene mutation. It has not been my only diagnosis, but it has certainly contributed to my belief that:
1) gluten is the devil (for me, anyway). I will never knowingly eat gluten again, and;
2) along with careful supplementation prescribed by my functional health peeps, the Autoimmune Protocol (AIP) is the foundation approach I am taking to reset my body’s equilibrium to ‘optimal’.

“The Natural healing force within each of us is the greatest force in getting well.”- Hippocrates

MTHFR is one of the more recent genetic buzzwords. And, I suspect we’ll be seeing a bit more of it as more and more people test positive for variations of the gene. It’s a bit of a minefield to work your way through, especially if you don’t have a science background. But, with approximately 1 in 2 people having an MTHFR defect, it’s a significant issue.

On Wednesday evening, David and I tootled off to navigate our way through the pokies at the North Sydney Leagues Club. We went to listen to a talk about the MTHFR gene by naturopath and founder of MTHFR Support Australia, Carolyn Ledowsky.

Honestly? – Carolyn gave the clearest explanation of the very complex MTHFR process that I have come across to date. And, that is saying something, because as you know – I am no science nerd.

But I’m getting ahead of myself…


MTHFR stands for methylene-tetrahydrofolate reductase.

It is an important enzyme that converts the folate you eat, by way of all those leafy green vegetables, into the active form – called 5-Methyltetrahydrofolate. This conversion is called methylation. It is essential for our cells to function. All of them. Every single one.


Sidebar: It’s also important to recognise that folate is Vitamin B9 and is not the same as folic acid. Folic acid is a synthetic, man-made substance and is not found in nature. In fact, if you have a MTHFR gene mutation, folic acid can be very bad for your health. And since most of the bread we eat is fortified with the stuff, it’s yet another reason to steer clear of gluten.

But, how do I know if I should get tested for MTHFR?

Good question. And, to be honest – there are far more capable people out there than me to answer it. In a nutshell, if you suffer from a variety of symptoms and – no matter what you do – nothing seems to work to make them better, you may have MTHFR. Perhaps something to discuss with your GP?

Here are just some of the illnesses associated with MTHFR:

TSL MTHFR Conditions
(Original data sourced from here)

In my particular case, I had a chronic autoinflammatory skin condition, allergies, (unrealised) anxiety, poor detoxification AND some challenges shifting my weight.

Within the MTHFR gene, there can be a number of mutations. The two key deviations currently tested for are MTHFR C677T and MTHFR A1298C.

If you test positive for the gene, you will have a permutation of the following:

TSL MTHFR Positive
(Original data sourced from here)

I’m compound heterozygous. So for me, that means, with an estimated 50% loss of methylation function, I want to do everything I can to improve my methylation.

Working with your medical team is obviously the first step in working out what, if any, supplementation you may require. And, this is not the same for everyone.

But, it doesn’t stop there.

There are Other Factors that Affect Your Methylation Process…

Poor diet – Turns out your Mum was right. Eat your greens! You need to eat plenty of leafy greens to get adequate levels of vitamins. Long term vegan diets can be a problem because you’re not getting B12 from things like egg yolks, meat, liver, and oily fish. Another issue is raised levels of homocysteine (which depletes all those good B vitamins). This can be caused by excess animal protein, sugar, the wrong fats, too much coffee, and alcohol. And, of course – steer clear of foods that contain folic acid (that’s most packaged, gluten-containing foods).

Smoking – I’m an ex-smoker. Boy, do I regret that habit now. The carbon monoxide from cigarette smoke deactivates vitamin B6.

Toxins and Chemicals – unfortunately, it’s a fact of life that we are exposed to more and more toxins in everyday life. Making an effort to minimise these as far as possible – limit the use of plastics, eat more organic food, taking care with our household cleaning goods – are all small steps that can have a big impact on our health.

Malabsorption – Food allergies, digestive problems, and even getting older can affect our ability to absorb the nutrients from our food.

Decreased stomach acid – Aging and a variety other conditions (including vegetarianism) can reduce stomach acid — and therefore affect our ability to absorb vitamin B12

Medications – certain drugs can affect your levels of B vitamins. It is important that you discuss this with your doctor.

Stress – really bad for your methylation. REALLY. Start a regular yoga practise. Meditate. Start tai chi. Anything that works for you to mitigate stress.

As part of my journey back to optimal health, I’m following the autoimmune protocol – a nutrient-rich elimination diet that removes foods that irritate the gut, cause gut imbalance and activate the immune system. It also involves actively working on stress management, improving my sleep, moving, spending time in nature and just getting a little more zen about life. It’s working for me, too.

If you would like to learn more about MTHFR or MTHFR Support Australia, they have a great (free!) video detailing how MTHFR can affect your life. They also hold monthly information evenings if you happen to live in Sydney.

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Comments (20)

Oh no poor thing…. I had to have this test for recurrent miscarriages…. Fortunately I was negative, but I think you can get supplements for folate which by pass the absorption issues caused by the mutation. I had no idea about all of the other issues it causes.

Hello BCD (and her wee man!)

Yes – you can get pre-methylated folate supplements. I take them (along with a bunch of other things that make me rattle when I walk!) The big thing is that everyone is different – so, it’s important to work with a medical professional who knows about MTHFR.

Thank you, thank you, thank you for this post. We’re trying to constructively address methylation in our household but it’s hard to do effectively without knowing WTF MTHFR really is… I’m reblogging this (my first reblog ever!)

P – you always say something to make me feel good about my day. Thank you.

I know this post is not the most comprehensive, scientifically accurate, dissection of MTHFR. It’s just such a complex area. I wanted to try and provide something that was (hopefully) a little easier to digest. AND, I’m convinced that the autoimmune protocol is helping!

BTW – here at Casa TSL, we refer to it as the MotherF***er Gene 🙂

Reblogged this on petra8paleo and commented:
This is so important, I had to reblog. It helped me answer the question ‘WTF is MTHFR?’ which might just be THE question we’ve all been scrambling around trying to find the answer to…

I second Petra, thank you TSL!!!

I’ve read e-books, I’ve read blog posts but still I don’t fully understand the process. MTHFR had slipped out of my mind recently, great to bring it back to the forefront with such a well-written post.

I’m also uber fascinated with epigentics at the moment which intersects nicely with this subject. Turns out you can have the mutation for MTHFR (or any other gene for that matter) and it not be actually expressing it (i.e the gene is still functioning as it should). Likewise you might not have the mutation for MTHFR but your methylation process can still be impaired.

Also to note that MTHFR isn’t the only gene involved in the methylation process, there are others too and also others which aren’t involved but impact it…

Awww – Bless your cotton socks, PI!

I’m with you on the subject of epigenetics, too. The body is an amazing thing – and, I’m trying to get mine to compensate for my faulty genes by adopting this AIP caper!

As for genes, have you done the 23andme testing PI?

Sure have! Well worth the $99 – have a few mutations incl. MTHFR and CBS.

I posted on it a little while back:

http://thepaleopi.com/2014/03/25/the-curious-case-of-the-sulfur-sulphur-sensitivity-pt-1/

Really interesting post – thank you!

I tested positive for A1298C heterozygous and then had a homocysteine test to see if I needed to take any supplements and as the levels came back “normal” I was told that I didn’t….even as I’m writing this I don’t really know what it all means which tells me I should research a little further!

Thanks for giving me a great starting point 🙂

Kirstie – I would make 2 comments (and I am no doctor!)

Based on what I know, if you are going to be diagnosed with MTHFR issues, heterozygous A1298C – at this stage, at least – research seems to suggest that it is the least problematic of the permutations.

Also, your body has ways of compensating for genetic abnormalities. Sometimes, even if you are positive for something, supplementation is not a requirement because your body has picked up the slack. Other times, not so much!

Silly me – just commented on another post asking if you ever heard of this. Of course you have! I have just started a supplement with methyltetrahydrofolic acid in a lozenge with B12. My dr didn’t know much about it – I am following the recommendations from methfr.net

Ben Lynch is widely recognised as THE MTHFR guy. It’s just that sometimes, it can be a challenge to dissect all the ‘science’. Well, that’s what I think! Are you having any luck with your current supplementation?

The MTHFR Support Australia site has some good resources. Worth a look-see.

Thank you for this post!!! I was tested positive for this last May and honestly haven’t found the brain space to dig too deep into this topic!!

Hey Charlotte – apologies that I never came back to you. I somehow overlooked your comment.

It’s a bit of a mine field to absorb, isn’t it?

I read about the MTHFR gene on another blog and that got me excited and I started looking for folate. It is not easy to find. Folic acid however is easy, but useless for me. Most people haven’t heard of folate. I’m taking 800mcg of folate (Metafolin) since two weeks ago and the difference has been like night and day. I feel soooo much better. I’m slowly changing my diet for the better as well but good things take time.The folate on the other hand gave me a dramatic improvement.

Hi Von’ – isn’t it amazing how profound the change can be? Glad you’re feeling better 🙂

I know. It feels too good to be true. Long may it last.

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