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Navigating the MTHFR Gene Mutation: A Simple Guide

Navigating the MTHFR Gene Mutation: A Simple Guide

Navigating the MTHFR Gene Mutation: A Simple Guide

Genetics play a significant role in determining our health and wellbeing.  The MTHFR gene mutation is an inherited and a common gene variation than impacts the way we process certain nutrients. It is estimated that about 40% of the population have this gene mutation, which is why it has gained attention in recent years.  The gene provides instructions for producing an enzyme called “Methylenetetrahydrofolate reductase” and can lead to high levels of homocysteine in the blood, low levels of folate and B12.

In this blog, we consulted Kathryn Cornwell, certified nutrition coach, to explore common signs of the MTHFR gene mutation, its’ implications, and how to best support it.

What is a MTHFR Gene Mutation?

The MTHFR gene works like a recipe your body follows to create a critical protein called the MTHFR enzyme. You can think of this protein as a diligent worker in your body's cellular factory. This worker's job is to help convert the food you eat into vital fuel your body needs. In more technical terms, it's involved in the process of converting a type of B vitamin called folate into a form (called methylfolate) that your body can use more easily.

When we talk about the MTHFR gene mutation, we're really talking about certain "typos" in this gene recipe, known as C677T and A1298C. These typos can cause the diligent factory worker, the MTHFR enzyme, not to work as efficiently as it should. The result? Your body might not transform folate from your food into the usable form as efficiently as it could, which can lead to lower levels of the crucial B vitamin folate in your body.

The C677T typo can also lead to an increase of a substance called homocysteine in your body. High levels of homocysteine can make it harder for your body to maintain heart and brain health. This typo can also interfere with how well your body processes vitamin B12, potentially leading to lower levels of B12.

If you have the A1298C typo, your body might have a harder time producing important brain chemicals that regulate your mood, which could potentially lead to mood disorders or difficulties with brain function.

It's important to remember that everyone is different and having a typo in your MTHFR gene doesn't automatically mean you'll have these problems. A lot of different factors contribute to your health and well-being, including your overall health, lifestyle, and even other genes.

Whether you have one or two copies of these typos (inherited from either or both parents) also matters. The more copies of the typo you have, the less efficiently your cellular factory worker might be working.

Our understanding of this area of genetics is still developing, and there's a lot we're still learning. If you're concerned about the MTHFR gene mutation, it's a good idea to chat with a healthcare provider who can guide you based on your individual situation

Why we need to balance homocysteine, B12, and folate

Homocysteine, folate, and B12 all have key roles in keeping our bodies healthy. When levels of homocysteine are too high and folate and B12 too low, our health could be affected.

Think of homocysteine as a party guest who can cause trouble if they stay too long. In high amounts, homocysteine can contribute to damage in our arteries, making it harder for blood to flow and increasing the risk of heart issues like heart attacks and strokes.

On the other hand, folate and B12 are like our body's support team, helping our cells grow and function properly. Folate is especially important for pregnant women as it supports the growth of the baby's neural tube. Low levels of these nutrients can lead to fatigue, trouble concentrating, and mood changes. It can also result in anaemia, which means your body has fewer red blood cells than normal or your red blood cells don't function as they should, leaving you feeling weak and tired.

So, keeping homocysteine, folate, and B12 at healthy levels is a bit like balancing a see-saw. It's all about ensuring we have just the right amount of each for our bodies to function at their best.

5 Common signs of MTHFR gene mutation

  1. Mood disorders: Mood disorders such as depression, irritability and anxiety have been linked to MTHFR gene mutation, due to low levels of folate that disrupt the production of serotonin, which regulates mood.
  2. Fatigue and low energy levels: Individuals can experience chronic fatigue and decreased stamina due to the impaired absorption and metabolism of folate. This can affect daily activities and quality of life.
  3. Recurrent miscarriages: Sadly, this gene has been associated with an increased risk of recurrent miscarriages. Again, low folate plays a role as this is crucial for healthy foetal development and deficiencies can contribute to pregnancy complications.
  4. Digestive problems: Impaired folate metabolism can affect the digestive system, leading to symptoms like bloating, constipation, and irritable bowel syndrome (IBS)
  5. Cardiovascular issues: Elevated homocysteine levels resulting from the MTHFT gene can increase the risk of cardiovascular problems, including heart disease, stroke, and blood clots.

Having a MTHFR variant doesn’t mean that you need medical treatment.  It could just mean that you need to be aware that you may be vitamin B12 and folate deficient which you can support with a diet that is nutrient dense in these vitamins.  Always consult a doctor if you are suffering or suspect that you may be suffering from a medical condition.

5 ways to support MTHFR gene mutation

  1. Support overall wellbeing and manage stress: Chronic stress can have negative effect on the body’s methylation pathways and overall health. Prioritise stress management techniques such as regular exercise, quality sleep, breathwork and engage in activities that bring you joy and relaxation. They can all help support the proper function of the MTHFR gene.
  2. Eat a nutrient dense diet: Certain vitamins play a key role in supporting the function of the MTHFR gene. These include folate, vitamin B12 and B2. This means consuming a diet that is rich in leafy green vegetables, nuts, seeds, and quality animal protein.
  3. Supporting methylation pathways: Methylation is a biochemical process that plays a crucial role in aiding detoxification. Supporting the methylation pathway can aid the proper function of the MTHFR gene. Nutrients that help to support the methylation are choline, zinc, and magnesium. Good food sources that provide these nutrients are found in eggs, seafood, and liver.
  4. Minimise toxin exposure: environmental pollutants and toxins can put additional strain on the body’s detoxification pathways. Reducing your exposure to toxins found in beauty and personal care, and household cleaning products can alleviate the burden on the MTHFR gene. Opting for natural cleaning products, toxin free beauty and personal care products and choosing organic produce are steps you can take to minimise your toxin exposure.
  5. Get a DNA test: Testing for the 2 common variation of the MTHFR gene (C677T and A1298C), can provide you with a valuable insight into your genetic profile and help you understand how your body may process certain nutrients.


Say goodbye to guesswork.  By understanding the role of the MTHFR gene and your nutrient profile through your unique DNA, you’ll gain a clear understanding of potential nutrient deficiencies and how to address them.  As a certified nutrition coach let me guide you through the process of crafting a diet plan that aligns with your genetic predispositions. 

Please check out Kathryn's nutrition practice, if you're interested in functional nutrition coaching and a holistic approach to optimising your health that allows you to take control of your health. 

If you enjoyed this article, please subscribe to our bi-weekly health newsletter, Bites of Health. Dive into health trends, expert advice, nutritious recipes, and actionable tips every Monday at 8am BST.

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