MTHFR Support

What is MTHFR?

Do you know that almost every cell in your body requires active folate to function properly?

MTHFR polymorphism

If you’re reading this, it probably means you have recently discovered you have an MTHFR polymorphism (this means mutation or change from the normal version) and you’re wondering how this affects your health, and in particular, how this may be impacting your health.

If you’ve been searching the web for answers, you might be getting very confused by the contradicting advice out there.

Some might tell you it’s not a big problem and not to worry about it. Others may tell you it is a problem and if you take high doses of folic acid, then it’s resolved.

Then there are those that may tell you that folic acid is the worst thing to take if you have a slow MTHFR enzyme, and to avoid it altogether!

Methylene tetrahydrofolate reductase (MTHFR)  is a gene that makes an enzyme in your body that converts the folate you get from food and supplements (e.g. folate and folic acid) to an “active” folate your body can use. Almost every cell in your body requires active folate to function properly.  Whether your issue is infertility, immune dysfunction, multiple chemical sensitivity or mood disorders, active folate makes ‘methyl groups’ that help you function optimally. Think of them as little switches. Without active folate and other nutrients, these switches just dont work. But what you may not know, is that some people have a gene that slows down their MTHFR enzyme (sometimes up to 70% slower!), thus significantly reducing the amount of active folate and methyl groups available to their body for every day processes and healthy reproductive function.  MTHFR gene polymorphisms (i.e. MTHFR genes that have been slightly changed) have been associated with many reproductive concerns including, infertility, miscarriage, stillbirth, and other conditions such as headaches, migraines, childhood behaviour disorders, allergies, chemical sensitivities, gut health and detox, sleep issues, hormonal conditions and cardiovascular diseases.
MTHFR enzyme

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The MTHFR gene helps you make methyl folate. Next methyl folate helps you make the little methyl groups that your body uses for the following:

  • Combating  Stress
  • Supporting detoxification
  • Clearing toxic estrogen (you might have endometriosis, fibroids, heavy periods, mood changes)
  • Reducing anxiety
  • Supporting brain and mood
  • Having a  good creatine for muscles
  • Having a good memory
  • Creating healthy levels of hormones
  • Supporting sleeping well
  • Having a robust  immune system
  • Playing a role in fighting cancer 
  • And many more

So, if you are deficient in methyl folate, any or all of these above functions may be affected. And the issue is that the more you are exposed to different stressors, the more you may be affected by the lack of folate.

I liken it to this scenario:

Imagine you are driving down a freeway and in your lane there are a lot of potholes, then it doesn’t really matter the age of your car, it will get damaged. It doesn’t matter how well you look after your car, it will still get damaged. But imagine if I came along with a road crew team and plugged up all these potholes? It doesn’t really matter how old the car is, it will be able to  travel along ok.

Imagine now your MTHFR polymorphism is a pothole. How many you have (see explanation below) will determine how deep the pothole is.

Then let’s say you are driving along in your pothole free lane and a storm hits, you generally will be able to keep in your lane pretty well.

That’s how we think of your health. Do you have big potholes that need to be fixed?

How many environmental storms have you had that knocked you around before the potholes were plugged. This is why some of you feel really knocked around.

So the answer to the BIG question – What impact does MTHFR have on my health, is really how big the potholes are and how many storms have you tried to weather. These environmental storms may be viruses, flu, COVID, gut infections, exposure to mould, parasites. 

If you want to know specifically how MTHFR can affect your fertility, see here.

What is MTHFR
MTHFR gene

So how do you know how big the pot hole is?

What do your results mean?

There are currently a total of 34 mutations in the MTHFR gene. 

The MTHFR gene sits on Chromosome 1. There are two key variants we test for (as at this stage there is little or no research on the others). 

The two variants (or SNPs) that we currently test for are:


Your results might look like this;

  • MTHFR C677T ++ or MTHFR C677T homozygous
  • MTHFR C677T +- or MTHFR C677T heterozygous
  • MTHFR A1298C ++ or MTHFR A1298C homozygous
  • MTHFR A1298C +- or MTHFR A1298C heterozygous

Or finally:

  • MTHFR C677T +- or MTHFR C677T heterozygous and
  • MTHFR A1298C +- or MTHFR A1298C heterozygous 

This combination of one of each means you are compound heterozygous

For further explanation, watch this video here 

Heterozygous  = 1 copy of the gene from either parent
Homozygous  = 1 copy of the gene from each parent
MTHFR C677T Heterozygous = 40% loss of function *
MTHFR C677T Homozygous =  70% loss of function *
MTHFR A1298C Heterozygous = 20% loss of function (research not known)
MTHFR A1298C Homozygous  = 40% loss of function **
MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function

*Sources here 

** Source here

What is MTHFR

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MTHFR Clinical


Ok so now you know if you have the MTHFR gene, and you are probably thinking you might have a deficiency in these methyl groups. So how do you know how much folate you need to take? The correct dosage is key to your health outcomes but you must know to find this correct dosage for you depends on your other genes. Because it’s the combination of genes that matter, not just MTHFR.

For more help watch these videos below:


For our patient handout and guide on what foods are without folic acid and what foods are fortified with folic acid see here

Want to know what foods contain Folic Acid?
Download our FREE Folic Acid Fortification - Food to Enjoy and Foods to Avoid PDF here

Folic acid vs 5,MTHF 
Watch our webinar on the topic of ‘what is the right form of folate for you’ here

Do you feel sick when you take multivitamins with folic acid?

This is a major clue that you might have problems with your folate pathway. 

What are the best supplements?

We know that we are all genetically different. Your DNA combination is not the same as the person next to you. So by understanding how your DNA affects your health, you can have profound improvements in your health outcomes. Our MTHFR Support healthcare practitioners are here to provide you with individualised health care solutions tailored just for you.

What causes ‘gene expression’?

You  are born with your genetic makeup. There is nothing you can do about the genes you have been given, but what you can do is change the way they act. This is called epigenetics.

This means that certain nutrients, herbs and supplements can actually change the way your genes work. We can make an enzyme work faster or slower by giving more or less of something and fortunately (or unfortunately) your environment can do the same thing. Environmentally, if you get a virus, bacteria, gut bugs or exposure to a toxin,  your enzymes will work differently. Sometimes they speed up, sometimes they slow down. In the case of the MTHFR gene, for example, we know that stress puts more demand on the MTHFR gene and you may get even more deficient in these methyl groups. The gene therefore becomes ‘expressed’ and doesn’t work the way we want it to. That’s why many people with MTHFR genes actually cope with stress worse than people who don’t have the gene.


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Carolyn Ledowsky

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