MTHFR - What is it and what does it do?

MTHFR - What is it and what does it do?

MTHFR - Methyltetrahydrofolate reductase for short... Just kidding, we will stick with MTHFR for this blog, or it will run into a 300-page novel! But what is MTHFR?

MTHFR – What is it?

It is simply one of the thousands of enzymes in the body. An enzyme is something in the body that makes things happen. You may be familiar with enzymes in your digestive tract that breaks down foods for digestion or enzymes that produces cellular energy. This enzyme helps convert homocysteine, a potentially lousy chemical into a helpful amino acid called methionine. How it goes about this process is a long and fascinating story.

How does MTHFR work in the body?

There is a relatively common and usually beneficial process that occurs in the body called methylation. For example, when you methylate the DNA in your body, it regulates the expression of that gene in a beneficial way. You see, genes dictate things like hair color, eye color, and various processes in the body, but the expression of your DNA can be regulated by methylation. How you express your DNA is essential when it comes to disease.

What happens if your Methylation isn't working properly?

It is more than vital that your methylation and your methylating enzymes like our hero MTHFR works effectively. For example, if methylation becomes aberrant, it can lead to common disease states. If you need more reasons to make sure you methylate, low levels of methylation increase a nasty inflammatory chemical called interleukin 6 (IL-6), and too much inflammation causes all sorts of grief in the body like diseases and pain. For example, in a group of people suffering the awful autoimmune condition, Lupus, research has found that these individuals have low methylation levels.

Methylation may be involved in the aging process itself?

Along with a host of terrible diseases, poor methylation may be related to the aging process itself! Sure, methyl problems are related to age-related diseases but may also be related to the aging process itself, almost like a what came first, chicken and egg scenario.

When MTHFR plays up.

The MTHFR enzyme is regulated by genes, like most things in the body. However, genes can have subtle changes, which may make the genes work too much or too little. Put simply, these gene changes (the nerds call ‘polymorphisms’) alter how things work, sometimes for the better but usually for the worse. Our hero enzyme, MTHFR can have 2 common polymorphisms (called the C677T Polymorphism and the A1298C Polymorphism). These occur through the Western Population with around a third of the Population having the 677 polymorphism and 1/3 of us having the 1298 polymorphism. About 1 in six have both polymorphisms. This should lead you to one question…so what?

How is your heart?

We have already mentioned a few nasty conditions associated with crappy methylation. Well, here is another one – heart disease. As mentioned earlier, the MTHFR enzyme helps get rid of what can be a toxic amino acid called homocysteine. If homocysteine builds up, this can become toxic to our blood vessels, leading to heart disease. Interestingly, we have known about MTHFR problems and heart disease for around 20 years now. If you have an MTHFR polymorphism, there is a pretty easy fix to get around all of this stuff!

The way to dodge all the MTHFR problems

I have been a naturopath for over 25 years now. I am aging, and thus, I have an increased risk of a number of diseases, being on the wrong side of 50 and all. I am obviously right into health. I exercise daily, eat really well, and take supplements. I do 'the big three' and yet, here I am ignoring the test that could determine if I have one or both polymorphisms. Am I crazy? Why am I ignoring such a test?

Food is important

I sleep at night not knowing my MTHFR status because there is some simple advice your Mum probably gave you that means you don't have to worry so much about it. And that advice? Eat your vegetables. Ok, veggies, fruits, nuts seeds, salads, and beans. Is that it? Well, yes, because these foods are full of the activated folate that the body needs. The form of folate in foods is 5 methyl THF, and if you refer to figure 1, you can see that if we already eat that stuff, it makes MTHFR a bit redundant. The way to remember where folate is found is in the word folate. Folate comes from foliage, so make sure you eat heaps of plant foods, and you should be fine.

If you are still worried, you can supplement with 5 methyl THF, which is found in all good supplements. Folic acid is synthetic and needs to be activated by the body, so keep that in mind when looking to support Methylation. Supplement with the folate found in foods, like Mum always said, eat your veggies!



Holliday R, Pugh JE. DNA modification mechanisms and gene activity during development. Science. 1975 Jan 24;187(4173):226-32. PMID: 1111098.

Jin Z, Liu Y. DNA methylation in human diseases. Genes Dis. 2018;5(1):1-8. Published 2018 Jan 31. doi:10.1016/j.gendis.2018.01.002

Cai X.Y., Lu Y., Tang C. Effect of interleukin-6 promoter DNA methylation on the pathogenesis of systemic lupus erythematosus. Zhonghua Yi Xue Za Zhi. 2017;97(19):1491–1495.

Jin Z, Liu Y. DNA methylation in human diseases. Genes Dis. 2018;5(1):1-8. Published 2018 Jan 31. doi:10.1016/j.gendis.2018.01.002

Nic H, Mackic-Djurovic M, Eminovic I. The Frequency of the 677C>T and 1298A>C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population. Med Arch. 2018;72(3):164-169. doi:10.5455/medarh.2018.72.164-169

Hall J, Solehdin F: Folic acid for the prevention of congenital anomalies. Eur J Pediatr 1998; 157: 445-450.

Wenstrom KD, Johanning GL, Johnston KE, DuBard M: Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol 2001; 184: 806-812; discussion 812-807.