Always tired? It could be because of the MTHFR gene

Maybe it's not your newborn that's the problem.

There are literally thousands of different genes that can impact the way we feel, the way we metabolise food, the way we store fat and the way we regulate our energy. 

The more we learn about the complexities of the human body, the more we come to understand the complex interactions between our genes, our environment and our lifestyle choices.

For anyone who presents to a medical professional with fatigue, it is normal for the practitioner to seek out an underlying medical explanation - low iron or thyroid dysfunction or even an allergy or food intolerance. There is though, the relatively common scenario in which there is no obvious explanation for the fatigue.

One gene that we are learning a lot more about, the MTHFR gene and specifically mutations in this gene can play a significant role in our daily experience of energy and as such may be another medical area worth exploring should you be experiencing unexplained, chronic fatigue-like symptoms. 

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Sometimes constantly feeling tired isn't just about a new baby and sleep deprivation. Image: iStock

What is the MTHFR gene?

The MTHFR gene is the gene responsible for producing an enzyme called ‘methylenetetrahydrofolate reductase’, which plays a key role in converting folate into an active form that can be utilised in the body. These active molecules play a role in the synthesis of DNA, the formation of new blood cells, in producing neurotransmitters including serotonin and detoxing at a cellular levels to help keep the cells healthy and inflammation low.

As is the case with many of our genes, mutations are relatively common in this set of genes and for those who may have mutations on a number of these genes, the efficiency of enzyme production may be affected. As active forms of folate are required for many of these cellular processes, there is growing interest in the potential role of MTHFR gene mutations and chronic fatigue-like symptoms. 

How MTHFR mutations are linked to fatigue?

One of the key roles of active forms of folate in the body is detoxification, in which these molecules help to reduce inflammation in the body and protecting the cells from damage. For individuals with MTHFR mutations, these natural pathways may be inhibited, resulting in increased inflammation, high levels of trace minerals in the bloodstream and less efficient metabolic processing. As these pathways are also involved in the production of neurotransmitters, low mood as well as fatigue are both common presentations in those with MTHFR mutations. 

The link to fertility

MTHFR mutations can be associated with fertility issues, and more specifically miscarriage as one of the key roles of active folate in the body is to build DNA. As new cell development is dependent on this pathway, unmanaged MTHFR mutations are associated with miscarriage, as well as inflammation, which may also negatively impact fertility outcomes. 

MTHFR gene is the gene responsible for producing an enzyme called ‘methylenetetrahydrofolate reductase. Image: iStock

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The issue with folate

One of the less frequently discussed interactions that may impact this gene mutation is that in Australia wheat flour is routinely fortified with folic acid - a synthetic form of folate. While mandatory fortification has been shown to help prevent neural tube defects, those with MTHFR mutations are not able to process synthetic folate in the same way the natural folate molecule is metabolised. This means that those with this gene mutation will potentially feel worse when they consume wheat flour, or gluten. Not because of the gluten, but because those following a gluten-free diet will be ingesting less synthetic folate.

Signs you may have a gene mutation

The good news is that if you do have an MTHFR mutation, the only thing you need to do is supplement your diet with an activated form of this vitamin, a form that the body can readily utilise. In addition, consuming as much naturally occurring folate in fresh fruits and vegetables and wholegrains will help to override the pathways in your body which are not working as efficiently, as naturally occurring folate is more readily utilised than synthetic forms. Once your body has access to the ‘active’ form of folate, over time inflammation will reduce and energy levels may even improve as the body’s natural methylation cycle in which folate is utilised will be able to again function at optimal levels.  

Originally published as Always tired? It could be because of the MTHFR gene