Do you suffer from, or have a family history of, anxiety, depression, migraine or related problems?

The good news is that a simple DNA test can tell you about your MTHFR gene. If you are interested in knowing more or in having the DNA test please contact me.

MTHFR – Easier to Say than Methylenetetrahydrofolate reductase!

We are all born with 2 MTHFR genes, one inherited from each parent. Some people have a genetic mutation in one or both of their MTHFR genes. People with mutations in one MTHFR gene are called “heterozygous” (one copy of the gene from one parent plus a normal one from the other parent) for the MTHFR mutation. If mutations are present in both genes (a copy of the mutant gene from each parents), the person is said to be “homozygous” for the mutation.

Ongoing research implicates MTHFR genetic mutations for not only mood disorders such as anxiety, depression and migraine but also in cases of multiple miscarriages, fibromyalgia, strokes, cardiovascular disease, diabetes, ADHD, Alzheimer’s Disease and even autism. 

The most common mutation in the MTHFR gene is called C677T. Individuals with two copies of this mutation (homozygous) occur in 5-10% of the population and these individuals are predisposed to developing high blood levels of homocysteine.


Homocysteine is a very important chemical found in the methylation metabolic cycle. This metabolic cycle is reliant on B-vitamins which is why a low B vitamin status is usually concurrent with poor regulation of mood.

When the MTHFR gene is properly working folate (vitamin B9) is synthesised into folinic acid (activated vitamin B9) that can than assist with turning homocysteine into the non-toxic amino acid methionine. Methionine is essential for cell growth and DNA metabolism.

What is Folate?

Folate, otherwise known as vitamin B9, is one of the 13 essential vitamins. Vitamins come in different forms that often need to be converted in the body to active forms of the vitamin. The active form of folate in the body is L-methylfolate, which can cross both cell membranes and the blood-brain barrier. Variations in the MTHFR gene means folic acid is unable to be converted into the active form the body can use.

Folate can’t be synthesized by the body, so it must be ingested either through food or supplements.

Dihydrofolate is the dietary form of folate and can be found in green vegetables, egg yolk, legumes, grains, nuts, some fruits, yeast, and organ meats like liver and kidneys. The synthetic form of folate is folic acid, which can be found in fortified foods such as bread and cereals, and multivitamins.

Both folic acid and dihydrofolate are converted into the active form in the body by a specific enzyme called MTHFR. It is then transported into the brain where its critical role is to act as a regulator of a class of neurotransmitters called monoamines. The three different neurotransmitters it helps make are serotonin, dopamine and noradrenaline.

Methylfolate is also responsible for many other methylation reactions throughout our body including processes such as cell division and DNA and RNA synthesis.

So, to summarise, when there is a MTHFR mutation, this results in problems making the amino acid methionine, impairing the methylation cycle which raises homocysteine levels and disrupts neurotransmitter synthesis resulting in mood disorders such as anxiety. 

In an honest and insightful article, journalist Elisa Black chronicled her journey with anxiety. With a life- long experience of crippling anxiety and poor outcomes with several treatments, Black discovered the cause – in her case, it was a genetic mutation of the MTHFR gene.

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