By 2018-08-14 InHealth

MTHFR and you

As a practitioner of functional, holistic medicine, I’m always on the look-out for the recent medical breakthroughs that might help explain why this or that patient isn’t getting better as quickly as I’d hoped.

One snippet of clinical insight that has recently caught my attention is the MTHFR gene, and the potential havoc that a mutation in this gene can wreak on our physical and mental health and well-being.

Not only can this mutation affect things like your fertility, immune system, liver and cardiovascular function – it’s also really common, with around 40% of us affected in some way.


So the acronym looks a bit silly – but when you realise it stands for ‘methylenetetrahydrofolate reductase’, the name of the enzyme produced by the MTHFR gene, it becomes easier to accept.

First of all – let’s clear up the definitions of ‘gene’ and ‘enzyme’.

Genes, which are made up of DNA, are present in all of your cells (except your red blood cells), and provide your body with the instructions for assembling all of your basic structures via protein formation. You can have minor variations in the sequencing of your genes that affect bodily functions in very specific ways – for example, changes or ‘mutations’ in the MTHFR gene.

Enzymes, on the other hand, are proteins encoded by our genes that cause a chemical reaction to happen. We have thousands of enzymes in our bodies that are responsible for different processes – one of these enzymes is methylenetetrahydrofolate reductase, or MTHFR.

This little enzyme is not only a mouthful to pronounce – it is incredibly important in a process called ‘methylation’.

This core process – whereby one molecule passes a methyl group to another molecule – occurs in your body millions of times each minute, in every cell of the body. So – without knowing the specifics, you can already start to appreciate how important it must be for our health.

Why do we need methylation anyway?

When methylation is working well, it helps to repair DNA, support detoxification processes, enhance neurotransmitter production (things like serotonin and dopamine) and maintain a robust immune system.

It is essential for turning our food – specifically folate (vitamin B9) and vitamin B12 – into healthy hormones. This means that people with a mutation in the MTHFR gene do not use folate in the same way, and may end up with a vitamin B12 deficiency.

Poor methylation may lead to a number of problems, including:
■ Depression, anxiety, and psychiatric disorders. If you have a family member on the spectrum, this can indicate an MTHFR mutation in the family
■ Fertility problems, miscarriage, pregnancy complications and foetal neural tube defects
■ Vascular disease, high blood pressure, heart disease, dementia and Alzheimer’s
■ Fatigue, weakness, constipation, numbness and tingling in hands & feet, poor memory and soreness of mouth or tongue (B12 deficiency)
■ Inflammatory and autoimmune diseases, like endometriosis or Hashimoto’s thyroiditis
■ Digestive problems like IBS

MTHFR and your fertility

One area where MTHFR is really crucial is fertility. Expectant mums are often advised to take folic acid before and during pregnancy, but in those with an MTHFR mutation, this does more harm than good.

Inability to process this synthetic folate leads to miscarriages and complications, or they simply aren’t able to conceive in the first place. The good news is that, if you do have an MTHFR mutation, there are several things you can do about it.

What can I do about it?

Firstly, switch to a methylated form of folate supplementation (L-methylfolate or 5-MTHF) and a methyl B12 supplement, and get yourself some home genetic testing ( to confirm.

As well as basic genetic testing, you may also benefit from a more comprehensive methylation panel – a blood test assessing amino acid metabolism. In complex or chronic cases, teaming up with your nearest natural health practitioner is usually a good idea to make sure you’re covering all the bases.

In terms of diet, increasing your natural folate and antioxidant intake with colourful, organic fruits and vegetables will help boost detoxification and lower overall toxic load. Go for beans, greens, oranges and mangoes.

Look at the big picture, too. Fixing things like a leaky gut issue or poor liver function, addressing stress and getting good quality sleep will also help lower inflammation in the body and contribute to a better you, overall.

By Poppy Burr

Poppy, BSc MCPP, is a qualified medical herbalist practising from Aljezur and Praia da Luz. To book a consultation, visit
or call on 969 091 683.

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