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If you are tired, depressed, anxious or struggling with hormones then perhaps MTHFR is affecting you….MTHFR is an abbreviation for a common genetic mutation that is estimated to affect somewhere between 30-50% of the population. MTHFR stands for methylene-tetrahydrofolate reductase.

MTHFR is an enzyme that converts the folate you eat from foods or supplements into the active form 5-Methyltetrahydrofolate via a process called methylation. Methylation is a biochemical process, whereby a methyl group, consisting of 1 carbon and 3 hydrogen atoms is transferred onto a substrate including DNA, RNA, neurotransmitters, hormones, immune cells and nerve cells. Once these compounds are methylated, they can begin functioning. If you have a mutation in this gene it means that it will affect how much active folate you have in the body. A family history of stroke or heart attack, infertility, miscarriage, depression, headaches or migraines may be caused by MTHFR. Folate, also known as vitamin B9, is found in the plant foods we eat and is different from folic acid, which is synthetic and found in fortified foods and supplements. Australian bread for example is always fortified with folic acid unless it is organic. Folate is required for the following –

- Synthesis of DNA, RNA and SAMe.

- Detoxification of oestrogen.

- Single carbon metabolism or methylation (the addition of a methyl group to another molecule)

- Production of neurotransmitters such as serotonin, dopamine, and noradrenaline

- Formation and maturation of red blood cells, white blood cells and platelets for healthy immune system function

- Detoxification of homocysteine which is an amino acid used as a marker for the development of heart disease. Elevated levels of homocysteine have been shown to increase the risk of heart attack, stroke, peripheral vascular disease, and blood clots in the veins.

- Turn genes, enzymes and neurotransmitters on and off

- Tissue repair.

- Turn on and off the stress response

- Protect our DNA and reduce the ageing process

- Detoxify chemicals and supply the body with glutathione

- Supply our body with energy

- Produces phosphatidylcholine, which is a key component of cell membranes, the mitochondria (where energy is made) and the myelin sheath (protective coating around nerves).

- Reduces histamine, if histamine builds up it can cause anxiety, insomnia, dizziness, migraines, eczema, hives, coughing, wheezing, tight chest and even period pain.

So in short if you are low in methyl groups, chronic disease, inflammation and poor health isn’t far away.

MTHFR has been linked to many diseases & symptoms, including-

- Depression and anxiety

- Recurrent miscarriage or infertility

- Hormonal imbalances such as PCOS, PMS, PMDD, & endometriosis

- Alzheimer’s disease

- Asthma

- Heart disease or cardiovascular disease

- Cancer

- Autism


- Chronic Fatigue syndrome and fibromyalgia

- Irritable Bowel Syndrome The MTHFR gene & testing There are many mutations that can occur with MTHFR. MTHFR C677T and MTHFR A1298C are the most common. A person may be-

- Heterozygous –one copy of the mutated gene from either parent and one normal copy

- Homozygous—two copies of the mutated gene from each parent (You can also have what is referred to as a compound heterozygous – one C677T and one A1298C mutation)

Variations in these mutations can reduce the body's capacity to convert folate to methyl folate by 20-70%. Compound heterozygous mutations is estimated to reduce function by 50%. This then significantly affects our immune function, detoxification, mood and overall health. Testing is usually ordered by your naturopath or doctor. It can be a blood test or a mouth swab.

Supporting Methylation

- Improve gut health

- Improve diet. Eating fresh, healthy plant-based foods, with lots of leafy green or colourful vegetables, sprouts and in season fruit are all important.

- Support phase 11 detoxification in the liver if required

- Getting enough sleep, exercise, and reducing stress are all important

- Reduce alcohol consumption as this uses up our B vitamins

- Address other nutritional deficiencies, B’s, zinc, magnesium & choline.

- If you have infections – bacterial /

fungal or viral – address those

- Reduce environmental toxin exposure as this reduces available glutathione

If needed, activated folate can be supplied as a supplement in the form of 5-Methytetrahydrofolate/ levomefolic acid... It is important that it is accompanied by activated B6, B12 and depending on the person B2 & B3 may be beneficial. Adequate zinc and magnesium are also important. The dose needed varies and it is best to see a practitioner who understands this condition as often conditions can be made worse by using high doses without co-factors to support the methylation cycle.

It is important to stress that this is one enzyme in the body, as MTHFR has become a bit of a buzz word & a lot of money spent on expensive geneti

c testing and supplements. I believe whilst MTHFR is important to consider it is not the magic bullet to health that many practitioners claim. Important yes…but in context of the rest of the body. Healthy gut, liver, diet, stress levels & suddenly MTHFR is a lot less of a problem….

Lesley x


Trimmer EE, et al. Methylenetetrahydrofolate reductase: biochemical characterization and

medical significance. Curr Pharm Des. 2013;19(14):2574-93

Altomare I, et al. The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of foetal loss: a case series and review of the literature. Throb J. 2007;5:17

Thuesen BH, et al. Stopy, asthma, and lung function in relation to folate and vitamin B(12) in adults. Allergy. 2010 Nov;65(11):1446-54

Marchal C, et al. Association between polymorphisms of folate-metabolizing enzymes and risk of prostate cancer. EJSO July 2008;34(7):805-810

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