There’s a lot of conflicting information available about MTHFR (methylenetetrahydrofolate reductase) on the internet, so this article is designed to break it all down for you and give you the facts.

Your body has many processes going on all the time that maintain our health, and one of those processes is called the methylation pathway. MTHFR is a regulatory enzyme in this pathway, specifically the homocysteine pathway that is folate-dependent. This basically means that your body needs folate in order for that methylation pathway to work correctly.

Dysfunction in this pathway has been linked to infertility in both sexes, recurrent miscarriage, risk of venous thrombosis (blood clotting disorders), mood disorders and mental health problems, and autism spectrum disorders.

There are two genes relating to MTHFR that are relevant. They are the C677T gene, and the A1298C gene. Having a problem with one or both of these genes may result in a reduced capacity for homocysteine methylation. With the genes, there can be heterozygous (one copy) or homozygous (two copies) issues with each gene. A dysfunction in the C677T gene is considered more serious than in the A1298C gene. As an example, if you are heterozygous for the A1298C gene, this is not associated with increased homocysteine in the blood (i.e. methylation is working correctly). However if you are heterozygous on the C677T gene, this IS linked to increased blood homocysteine and the above mentioned health risks. Being homozygous for either gene is also problematic, as is being heterozygous for both genes.

If you’ve had your MTHFR gene test done and you’re worried about the results, please don’t stress. These variations in genes are known as polymorphisms, and we all have them. Sometimes they don’t affect us, and sometimes they do. The degree to which we’re affected is the main issue, but quite often there are ways to mitigate any problems associated with particular polymorphisms.

In the case of MTHFR, we work around this by focussing on using the best forms of supplements. Folate (vitamin B9) is what your body uses in the methylation pathway. If your diet is deficient in folate from not eating fresh vegetables, then you will need to supplement that deficiency. Most supplements (in particular prenatal supplements) will use a synthetic form of folate called folic acid. This form is very poorly utilised by the body, especially in people with MTHFR gene defects. This is also the form that is used in fortified foods such as non-organic flour and breakfast cereals. Being inadvertently exposed to folic acid when you have an MTHFR defect can be problematic for your health, so please keep that in mind when making food choices.

In the supplements I prescribe to my patients, the more bio-available versions of folate called folinic acid and methylfolate are used. These forms bypass the enzyme issue in MTHFR and are able to promote healthy methylation, including in people with an MTHFR gene defect. These sorts of supplements are unfortunately not usually available on the market for people to purchase at shops, so you will need to see an allied health practitioner such as myself for access to these better quality supplements.

I offer MTHFR gene testing to all my fertility patients during their initial consultation. Regardless of the result I still tend to recommend the better quality supplements to all my patients, considering how poorly utilised folic acid is within the body.

Have you been tested for MTHFR yet? I’d love to hear your story so feel free to leave a comment below. Please note that all responses are considered to be informational/educational and do not replace the advice of your doctor.

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Photo credit: Drew Patrick Miller

Disclaimer: All information in this blog post, and all responses to questions are to be treated as educational information and do not replace the advice from your doctor or health professional. Kim Gatenby Acupuncture makes no claims as to the accuracy of the information contained herein.