MTHFR Gene – What is it? How does it affect me? What form of folate do I need?

Recently, functional and mainstream medicine have exploded with a tremendous amount of research into the MTHFR gene mutation. We receive a lot of questions about how to manage your health if you are living with this gene mutation, so here's a little more information! 


MTHFR stands for “Methylene tetrahydrofolate reductase” (bit of a mouthful, I know) and is an enzyme that works as a catalyst for an array of important biochemical reactions in your body. Its major role is the conversion of vitamin B9 (folate) into methyl-folate, which is essential for a process called methylation.

So why is methylation so important?

Well, basically every cell in your entire body undergoes methylation reactions daily. These tiny cellular reactions are what protect your body by repairing damaged cells and optimizing DNA cell function. Methylation is also involved in the tricky task of balancing our neurotransmitters – particularly dopamine, serotonin and norepinephrine – which are all involved in controlling our mood, behavior, sleep and overall mental health.

However, one of the MOST important tasks of methylation reactions is the conversion of Homocysteine into methionine. Homocysteine is linked to inflammation and an overall increase in risk for certain disease such as CVD, diabetes and stroke. Methionine is involved in building proteins, repairing and detoxing your cells and breaking down your neurotransmitters.

More methionine, less homocysteine, please!

So, what is the MTHFR gene?

The MTHFR gene, is different from the MTHFR enzyme, mentioned above. The gene, is basically the instruction manual for the building of MTHFR enzyme. When you have a genetic mutation in this gene, also referred to as SNPs (pronounced ‘snips’), then your body may struggle to build the MTHFR enzyme. This can cause some problems!

Two of the key variants that are tested for SNPs are the MTHFR C677T and MTHFR A1298C. You may have inherited one copy of the sniped gene from one parent (heterozygous) OR a copy from both parents (Homozygous). Basically, the more snips you have the less able you body is to methylate.

So, what do I do if I have the SNPs?

Never fear! You can manage your SNPs quite easily by supplementing with 5-MTHF – the pre methylated form of folate. This allows your body to bypass the methylation step needed to convert folate into methyl-folate, allowing for your methylation reactions to take place.

Most B vitamin supplement contain B9 as folic acid, the synthetic, oxidized form of folate. This form still needs to undergo an array of changes before becoming active. The conversion process is complex and dependent upon several enzymes including MTHFR. Individuals with genetic polymorphisms of the MTHFR enzyme will have varying degrees of impairment in folic acid metabolism. These individuals will benefit from taking a B multivitamin that contains 5-MTHF – the biologically active form of folate.

If you are someone, or suspect you are someone with the MTHFR polymorphism, please seek professional advice from your healthcare professional, to make sure you are getting the right supplement for you!


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