Certain foods are routinely fortified with the synthetic form of vitamin B9 known as folic acid (particularly breads, pasta and cereal) but those people who have variations in their MTHFR gene may be negatively impacted by consuming additional folic acid. Instead, those people should ensure that they only consume folate, the naturally occurring form of vitamin B9, or supplement with the ‘methylated’ and active version of vitamin B9 which is referred to as 5-methyltetrahydrofolate (“methyl folate”).

It is understood that 10% of Caucasians and Asians, and 25% of Hispanics have the most consequential variation in the MTHFR gene, often referred to as a single polynucleotide polymorphism (SNPs), so it is worth understanding what your biotype is so you can adapt your diet and supplement plan to suit your needs.

In this article, I will consider the potential risks associated with variations in the MTHFR gene and the impact of consuming folic acid for people with this altered genetic baseline.

Why is the MTHFR gene important?

The MTHFR gene creates the MTHFR enzyme which is important for a cycle known as methylation. Broadly, methylation is an important biological reaction within the body which helps other critical functions operate effectively by donating a methyl group so that a bodily process can occur. These include such things as detoxification, energy creation and DNA repair.

During the body’s detoxification process, if there are not enough methyl groups available then detoxification will be impaired leading to increased levels of toxins in the blood, which in turn leads to inflammation and even nutrient depletion as the body uses all its resources to put out the inflammatory fire.

Variants in the MTHFR gene are highlighted in the genetic tests such as DNA Life and knowing this about yourself can be empowering to make personalised dietary and lifestyle choices which suit your genetics. Even if you don’t have a genetic variation of the MTHFR gene, environmental factors such as being under chronic stress, having increased exposure to toxins through air contamination or eating a poor diet can result in the MTHFR enzyme being ineffective, leading to an increased risk of an impaired methylation process.

So what is the role of folic acid?

Folic acid is a form of vitamin B9 which is inactive in the body. Its active form helps decrease levels of homocysteine in the blood. Homocysteine is an amino acid and high levels in the blood are a risk factor for heart disease and cancer, so reducing amounts is beneficial for overall wellbeing.

For vitamin B9 to be active and have its necessary effects on the body, it requires the MTHFR enzyme to convert it from folic acid to methyl folate. Therefore, if your methylation cycle is defective as a result of gene variants or unfavourable external conditions, then folic acid will remain in its inactive form and build up in the body. As a result, you may have high serum levels of folic acid, but still be deficient at the functional cell level which is what the body needs to work properly.

Also, as folic acid builds up in the body this can prevent any of the active folate that you consume from doing its job, so it is excreted out of the body (which usually presents itself as a bright yellow colour in your urine!).

What are the impacts of a folate deficiency?

Folate deficiency is particularly important for women who are trying to get pregnant or are already pregnant, as folate is required by the developing foetus. Birth defects can occur as a result of the mother being deficient in this essential nutrient.

Folate deficiency can also cause megaloblastic anaemia, where the body produces less red blood cells, but which are also premature and enlarged. Consequently they are not able to carry out their necessary chores in the body, meaning that some of your essential organs, including the brain, might not receive an adequate oxygen supply. This can make you feel tired, weak, start to lose hair, get mouth sores and have shortness of breath. Enlarged red blood cells will be picked up on a routine full blood count test through your General Practitioner but these are often overlooked.

How can you take a personalised approach?

If you relate to any of the symptoms associated with folate deficiency or members of your family are suffering with these symptoms, then it is worth considering whether you might be impacted by a dysfunctional MTHFR enzyme. The best source of folate is found in foods which is found in green leafy vegetables, asparagus, avocados and Brussel sprout. However if you are supplementing, it is worth discussing with your doctor whether you should supplement with the methylated version of folate instead of the inactive form.

Personalising your nutritional protocol is key to supporting your health. We are all born wonderfully unique and the food that we eat and the lives we live should reflect that!



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