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What is MTHFR?

Depression, Asthma, Stress | February 1, 2017 | Author: Naturopath

IBS, mental health, depression, Asthma

What is MTHFR?

MTHFR is an abbreviation for a common genetic mutation that is estimated to affect 30-50% of the population. Most of us don’t realise we have it or what it even really means – but maybe things like a family history of stroke or heart attack or your own struggle with depression, migraine headaches or irritable bowel syndrome may be caused by the faulty enzyme called MTHFR.

What is MTHFR?

MTHFR stands for methylene-tetrahydrofolate reductase. It is an enzyme that converts the folate you eat from foods into the active form 5-Methyltetrahydrofolate via a process called methylation. If you have a mutation in this gene it means that it will affect how much active folate you have in the body.

What is folate important for?

Folate, also known as vitamin B9, is found in the foods we eat and is different from folic acid that is synthetic and found in fortified foods and supplements.

Folate is required for:

  • Synthesis of DNA, RNA and SAMe which are all essential for optimal cell health
  • 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 have been shown to increase the risk of heart attack, stroke, peripheral vascular disease and blood clots in the veins.

All of the above functions require the conversion of folate to the active form 5-MTHF as well as additional co-factors.

It also affects methyl groups in the body which are important to:

  • Turn genes, enzymes and neurotransmitters on and off
  • Allow tissue repair
  • Turn on and off the stress response
  • Protect our DNA and reduce the ageing process
  • Detoxify chemicals and supply the body with a potent antioxidant called glutathione
  • Supply our body with energy

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

The MTHFR gene

There is currently a total of 34 mutations that can occur in the MTHFR gene. The two main tests include:

MTHFR C677T and MTHFR A1298C

This can then be referred to as:

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

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 bodies 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.

Researchers are just beginning to understand the health implications of MTHFR genetic mutations. So far they have found an association with these conditions:

  • Depression and anxiety
  • Recurrent miscarriage
  • Alzheimer’s
  • Asthma
  • Heart disease
  • Prostate and bladder cancer
  • Autism
  • Chronic Fatigue syndrome
  • Irritable Bowel Syndrome

This is only a short list of conditions— there are hundreds of others that have also been linked to MTFHR.

How do I get tested?

There are 3 ways in which you can get tested to discover if you have the MTHFR mutation:

  1. A doctor or naturopath can order the test for you via a pathology lab. The test involves a blood sample to be taken and after which the results will be sent to your practitioner. It is important that both variants of the genetic mutation be tested.
  2. Go online to MTHFR Support Australia to order the test. The blood spot test can be collected at home and the results will be sent to you directly.
  3. 23andMe Genetic testing is a USA-based lab that uses a saliva sample to test for thousands of genes, including MTHFR variants. It offers more in-depth information about your methylation and overall health. This testing is recommended for people who have a chronic health condition and have seen little improvement with conventional or even naturopathic treatment.

What does it mean in regards to supplementing?

Folic acid is actually considered harmful for people with MTHFR mutations. They are unfortunately unable to convert folic acid to its active form allowing it to build up in the body and block the same receptors used to absorb folate from our foods. There are supplements available containing activated folic acid (methyl folate) but these products are only available through a health practitioner. It is common for these supplements to cause side effects, so they must be taken in low doses initially if they have been prescribed to you.

Overcoming MTHFR

If you have been diagnosed with MTHFR it just means you need to be extra vigilant with your health. Eating fresh, varied healthy foods, getting enough sleep, exercising and reducing stress are all important aspects to compensate the effects of the mutation.

You also need to go back to basic nutritional principles.

People who consume a diet high in animal proteins with small amounts of plant-based foods tend to be low in folate.

It is recommended you eat loads of leafy, green vegetables, sprouts and fruit. Liver, kidney and brewer’s yeast are also rich sources.

If you have unresolved health issues and are concerned you may have this gene is recommended to seek the advice of a naturopath or GP who specialises in this area, as MTHFR mutations and the health concerns for each individual can be varied and complex.  Australia’s best online discount chemist


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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