What is MTHFR?

What is MTHFR? Read our introductory blog post and watch our matching webinar here!

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Watch our Introductory Webinar Recording on MTHFR Below:


MTHFR stands for methylene-tetrahydrofolate reductase.

It is an enzyme that converts folate you eat into the active form (5-Methyltetrahydrofolate).

You can see from the pathway below that the folate you eat (DHF – dihyrofolate) has to be converted via many steps to the active folate 5-MTHFR.

The MTHFR enzyme affects this at the last step. So if you have a mutation in the gene then its going to be affecting how much active folate you have available.


Folate Metabolism

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What is Folate?

Folate is Vitamin B9 and is not the same as folic acid. (Folic acid is synthetic and is not found in nature. It must undergo various transformations to become active and be utilised by the body.)

      Folate is required for the following:
  • Synthesis of DNA, RNA and SAMe which are needed for optimal cell health. Proper cellular function is critical for our good health.
  • Single carbon metabolism or methylation. Various critical reactions in the body require the donation of methyl groups to become active.
  • Amino acid metabolism (for neurotransmitter, serotonin, dopamine and norepinephrine production and detoxification).
  • Formation and maturation of RBC (red blood cells), WBC (white blood cells) and platelet production.
  • Essential for detoxification of homocysteine.

For all the above functions to happen the body needs to convert folate to the active 5-MTHF (5-methyltetrahydrofolate) with the help of co-factors.

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      Methyl groups (made up of one carbon and 3 hydrogen atoms) are required for a huge range of functions in the body. Methylation is the addition of this methyl group to another molecule.
      Methyl groups:
  • Are the on/off switches for many cells activities. They turn genes on and off.
  • Turn enzymes on and off.
  • Turn neurotransmitters on and off.
  • Turn on tissue repair.
  • Turn off inflammation.
  • Turn on and off the stress response.
  • Reduce the aging process because they protect telomeres.
  • Detoxify chemicals and importantly help supply glutathione which is the body’s most important anti-oxidant helping to break down xeno-oestrogens and assisting with your phase-2 liver detoxification.
  • Give us our energy  because we need methyl groups to help our energy cycle create carnitine, Co Q10 and ATP and support mitochondrial energy.

If you are short of methyl groups your body cannot respond to whatever nutrients, vitamins, minerals or herbs you put in your body. So chronic disease is not far away.

      Add to this our way of life which also affects methylation.
    • There is a huge array of cellular damage from our toxic environment which damages cellular function. Mobile phones, planes, radiation, water pollutants, industrial wastes, pesticides, cosmetics. These build up to a point where our body’s self-regulatory processes break down and chronic disease results.
    • Genetically modified foods damage DNA.
    • Environmental pollutants like Bisphenol A in plastics.
    • Stress – stress uses up many methyl groups so if there are not enough and we have a mutation that stops us creating them we are in trouble. If the stress response is using up the methyl groups then this shortage will affect other systems like the brain, thyroid function, fatigue etc. Sometimes the stress response turns off but it doesn’t have enough methylation to turn it off.
    • Ageing – methyl groups decline with age. So cognitive decline can be greater if we have a decrease of methyl groups.

The MTHFR Gene

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).

      SNPs that we currently test for:

    • MTHFR C677T
    • MTHFR A1298C

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 & here 

** Source here

Current MTHFR Testing


For a thorough walk through of your testing options, please refer to the testing information found on our FAQ’s page by clicking here.

The Methylation Cycle



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