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  • Writer's pictureDeborah Smart

Why all the fuss about MTHFR?

Updated: Jan 28, 2020

MTHFR is a genetic polymorphism that affects the biochemistry of folate metabolism. We all know folate is recommended for pregnant women to help the developing baby, but why is folate status important for the rest of us?

Folate is a B group vitamin that works very closely with B12 to regulate our central nervous system, protecting the lining of our nerves and catalysing the production of neurotransmitters that regulate our moods and behaviours.

Folate is also required for methylation, a biochemical cycle that is happening constantly in every cell in your body - keeping you alive and healthy. The methylation cycle affects the health of the microbes in our gut, the formation of neurotransmitters like serotonin and dopamine which keep us happy and motivated, and helps us detoxify things like heavy metals, histamine and unwanted oestrogens. So basically, if methylation is not working well symptoms can include: high histamine levels and hayfever/sinus, gut issues like IBS or IBD, hormonal issues like PMS, PCOS and endometriosis, and mood disorders like anxiety and depression.

Now can you see what all the fuss is about? What if there was one gene that was underpining all these multiple conditions, that could be treated with a simple vitamin supplement?


Ok, it's not as simple as that, health issues rarely are. Our health status always involves a complex interaction between our genes (all of them, not just one), our environment, and our nutrition. However, as you will see from a simple google of 'MTHFR', an awful lot of people have discovered that treating this common genetic variation (10-30% of people have it - usually the 'sick' ones) makes a huge difference to their lives.


It's also not as simple as just popping a pill with folate in it either. Unfortunately folate, found in foods, cannot be naturally reproduced in a vitamin pill, so scientists developed folic acid, a synthetic form commonly added to pregnancy and multi vitamins. Unfortunately people with MTHFR variations cannot metabolise folic acid - the process is genetically blocked - so toxic levels of folic acid can build up in their system.

Folinic acid is a more natural form of folate, found in the body, but it also gets 'stuck' at the genetic block of MTHFR. Methyltetrahydrofolate is the fully converted form of folate that our body makes, ready for use, and it is now available in supplement form in Australia. However, 80% of people find that taking a straight up dose of this form of folate makes them feel WORSE initially, not better.

This can be for two reasons:

1. There are other genetic variations at play to help you cope with the lack of methylfolate and when it is suddenly supplied after so many years of deprivation the body goes into a bit of a 'spin'.

2. A sudden detoxification can occur of the build up of endogenous and exogenous chemicals that have not been previously eliminated easily because methylation has been so sluggish. Suddenly all these chemicals get released in order to be excreted but you feel pretty blah in the meantime.


The solution is not to avoid taking folate in the right form for you. Your body needs it and it will help reduce symptoms of the conditions you've been battling due to poor folate status.

What is needed is a careful incremental dosing of methyl folate, in conjunction with several other key nutrients which will support its proper metabolism by the body. Do not try this at home, alone;)!

IF you know your MTHFR status is problematic but you've never done anything about it...

OR you've been treated by someone for MTHFR and it made you feel worse so you gave up...

OR you've had health issues in a number of the above mentioned areas and you'd like to know if your MTHFR status could be a factor...

Make an appointment with a qualified practitioner skilled in the area of epigenetics. Like thousands of others before you, you may find this is a central cog in the wheel of your health.

So there you have it - MTHFR may not be the 'be all and end all' of your health management - but it is worthy of a bit of fuss;)

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