Highlights:

• What is behind MTHFR and is it scary to have a genetic mutation?
• What happens to the body and how to recognize the symptoms
• Why it’s not just pregnant women who need folate, how to get it, and why the form matters

Constant lack of energy, “brain fog,” overall fatigue — conditions that don’t improve no matter how much you rest, sleep eight hours a night, or eat well. Has this ever happened to you? The explanation might be simple — stress, a demanding period at work, family issues. But your genes could also be playing a role.

One gene that is increasingly being talked about in the world of health is the MTHFR gene. When it doesn’t function properly, it can affect how your body processes vital nutrients, leading to a range of health issues.

The good news? Once you understand how the MTHFR gene works and whether it’s performing its key role properly in your body, you can take steps to support your health the right way. In this article, you’ll learn more about the MTHFR gene mutation and what you need to know to manage it.

Let’s start from the beginning… What is MTHFR?

MTHFR stands for methylenetetrahydrofolate reductase — an enzyme that plays a key role in the metabolism of folate (vitamin B9) and homocysteine, an amino acid found in the blood. Genes called MTHFR genes code for this enzyme. The function of these genes is crucial for many processes in the body, from energy production to brain health. When these genes are mutated, the body has difficulty properly breaking down certain nutrients, often leading to a general lack of energy as well as issues with mental health.

Written like this, it might sound alarming, but it turns out that MTHFR mutations (yes, we’re talking about more than one mutation) are actually quite common. At least 40% of the global population has at least one of the two most widespread mutations. If you fall into that percentage, it doesn’t automatically mean your health will suffer. It simply means your body may need a bit more support to function optimally.

The two most common MTHFR gene mutations are C677T and A1298C. These are relatively widespread and affect how the body processes folic acid and homocysteine — a substance that, in higher amounts, can pose health risks. In the C677T mutation, part of the genetic information is altered, which can significantly reduce the activity of the MTHFR enzyme, especially if a person carries two copies of the mutation (known as the homozygous variant). A1298C is another type of mutation that can also have an impact, though usually to a lesser degree. It’s also possible for someone to carry both mutations in combination, which is clinically relevant too.

How does it work?  

For women who are pregnant or have given birth, the word folate or folic acid is probably nothing new. For everyone else, here’s a quick explanation: it’s vitamin B9 — a water-soluble vitamin mainly found in leafy greens like spinach, as well as in avocado, broccoli, legumes, citrus fruits, and whole grains. An adult needs about 400 micrograms of folate per day, while for pregnant women, this amount increases to at least 600 micrograms. In some medical conditions, even higher folate needs may occur.

MTHFR is the enzyme responsible for the final step in activating the folate you get from food so that it can be converted into its usable form. This allows folate to do its job — maintaining cell health and helping create new genetic material. Folate is critically important for a process called methylation, which influences human genetics and also activates various reactions in the body. You can think of its role like that of a light switch — it literally turns certain reactions and genes on and off.

The active form of folate also helps form blood cells and convert homocysteine — a type of amino acid needed for building proteins and other essential molecules.

If there is a mutation in the MTHFR gene, the activation of vitamin B9 and the important processes it supports are significantly reduced or even completely impaired.

How can you find out if you have an MTHFR mutation?

The symptoms of this mutation are not especially obvious, because folic acid (the synthetic form of vitamin B9) and folate (the natural form of vitamin B9) are so deeply involved in methylation, which affects cells and genes. Below, we’ll look at some of the consequences of an MTHFR mutation that could suggest you may need a genetic test. This test requires a blood sample or a buccal swab (from the inside of the cheek) and is available in most laboratories.

Genetic testing for the mutation is most often recommended after serious health issues such as miscarriage, fertility problems, a previous pregnancy where the fetus developed neural tube defects or congenital heart anomalies, a family history of MTHFR mutations or elevated homocysteine, a stroke, or an increased risk of thrombosis and other cardiovascular diseases, as well as mental health conditions (anxiety, depression, bipolar disorder).

Otherwise, a blood test that checks for elevated levels of folic acid (that the body hasn’t absorbed) may indicate either excessive intake of folate supplements or overconsumption of foods rich in folic acid. That’s why it’s important that if you have any suspicions or are experiencing health issues that raise concern, you consult with a doctor to determine the most appropriate test — and to have the results properly interpreted.

Potential Health Risks of an MTHFR Mutation

If you happen to be among the 40% of the population with one of the two common — or even another — MTHFR mutations, your body may be struggling with certain specific processes. These include absorbing folate (vitamin B9) and maintaining normal levels of homocysteine. These imbalances can manifest in various ways, but it’s also important to know that the mutation can be completely asymptomatic.

Some of the most common health conditions that researchers link to MTHFR mutations include:

Elevated homocysteine levels – Without properly functioning MTHFR, the body can’t eliminate this waste product from protein metabolism. As a result, homocysteine starts to build up in the body instead of being broken down. This can lead to…

Cardiovascular problems – Elevated homocysteine levels caused by poor folate metabolism may contribute to high blood pressure (hypertension), blood clots, and an increased risk of heart attack or stroke.

Folic acid deficiency – Since folic acid can’t be activated effectively — or at all — the cells don’t get the folate they need to stay healthy. In severe cases, this can lead to a type of anemia. It can also occur with insufficient dietary folate intake (which is quite common due to poor eating habits).

Excess folic acid or folate in the bloodstream – With an MTHFR mutation, the body may not be able to convert folic acid into its active form, causing it to accumulate in the bloodstream without being properly used.

Birth defects – Women with MTHFR mutations are at a slightly higher risk of giving birth to children with congenital defects, particularly neural tube defects. This is why folic acid is an essential component of prenatal supplements, due to its role in reducing this risk.

Miscarriage – A subject still considered taboo and often not openly discussed, even among women. But the truth is, 1 in 4 pregnancies ends in miscarriage. Folate is so important for gene formation that if the developing embryo doesn’t get enough at a critical stage, it may contribute to miscarriage. If you have a history of miscarriage, it may be worth discussing genetic testing with your OB/GYN.

Mental health problems – Conditions such as depression, anxiety, and mood disorders are often associated with MTHFR mutations, likely due to the role of folic acid and vitamin B12 in brain function.

Fatigue and lack of energy – Chronic fatigue and muscle weakness have been linked to MTHFR mutations because of the body’s difficulty in processing vitamin B12 and other essential nutrients.

It’s important to note that these symptoms can vary greatly from person to person — even among those with the same mutation. Some people may experience more pronounced effects, while others may have no symptoms at all and feel perfectly healthy.

In addition to the well-known C677T and A1298C mutations, science has identified 32 other mutations of the gene that codes for the MTHFR enzyme. The gene is located on chromosome 1, and the two common variants are the ones typically tested for in genetic screening, as the other 32 are less understood and less researched.

The degree to which the enzyme’s function is impaired depends on which type of mutation you have and whether you carry two copies (inherited from both parents) or just one.

What to Do If You Find Out You Have an MTHFR Mutation?

A diet rich in folate-containing foods is the first step if you discover you have an MTHFR mutation. These are generally healthy foods, also rich in a variety of vitamins, minerals, and antioxidants. Some of the top folate-rich foods include:

• Green and leafy vegetables: spinach, asparagus, lettuce, broccoli, Brussels sprouts, kale, arugula
• Avocado
• Lentils (red and brown), peas, chickpeas, black and white beans, peanuts
• Fruits: mango, oranges, papaya, strawberries, bananas
• Whole grains: brown rice, oats, quinoa, barley
• Egg yolk and beef liver (the latter is very high in folate but should be consumed in moderation)

As mentioned earlier, however, many people don’t get enough folate through diet alone. For women trying to conceive or already pregnant, folate is not only critically important, but the recommended daily intake is about one-third higher than the standard requirement.

In this case, the next step is to take a suitable product like Folacid Meta — a bioactive form of vitamin B9, more specifically known as methylated folic acid. What does this mean, and why is it important? Because if you have an MTHFR mutation and your body can’t convert folate properly, Folacid Meta provides it in a “ready-to-use” form. This allows your body to utilize it directly.

Taking bioactive folic acid is a way to bypass the block caused by the mutation and ensure your body gets the active folate it needs. Additionally, the methylated form reduces the risk of unmetabolized folic acid accumulating in the bloodstream — a condition that can have negative effects. Folacid Meta also supports proper homocysteine metabolism, which is vital for maintaining heart and overall health.

In conclusion

If there’s one thing you should remember from everything above, it’s this: the MTHFR mutation is not a sentence — it’s knowledge. Knowledge empowers you to make informed choices — for yourself, your body, and your future.

Whether you’re planning a pregnancy, struggling with constant fatigue, or simply want to better understand the processes happening inside you — this small piece of your genetic code could hold the key.

And when you know where the “blockage” is, it becomes much easier to find the right path — and the right tools — to work around it.

Sources:

7 Things You Should Know about the MTHFR Gene Mutation

https://www.medicinenet.com/what_does_the_mthfr_gene_mutation_cause/article.htm

MTHFR gene: What is it? How it affects our health?

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