What causes the MTHFR gene mutation

MTHFR: Small gene variation, big impact

A tiny, hereditary gene variation affects our health: If you have an increased tendency to thrombosis, depression, chronic pain or leaden fatigue, you should take the MTHFR test.

Okay, now it's getting complicated. But read on anyway, because it's worth it. Promised.

Do you have MTHFR-SNP?

The abbreviation SNP stands for a inherited genetic variant of a particular gene. In the past, no importance was attached to these minimal changes; they were considered to be a "freak of nature" that was irrelevant. However, thanks to improved data analysis methods, it is now known that such changes play a role in some diseases. This makes medicine more complex, but it is also better tailored to the individual patient - provided that the effects of the individual gene variants are already known. We are working on it, but not everything has been researched.

One of those genes in which an SNP has a major impact on our metabolism is the so-called "MTHFR gene". The abbreviation stands forMethylene tetrahydrofolate reductase. The first part of this word reveals the function of the gene: it controls the methylation process in the body.

What does methylation mean?

Methylation is a metabolic process in which the body repairs DNA, recycles molecules that are needed for detoxification, reduces inflammation and, among other things, "switches genes on and off", i.e. decides whether the respective gene is currently active or not. This process influences the development and course of many diseases as well as the aging process.

+++ More on the subject: We are as old as our DNA feels +++

MTHFR polymorphism and venous thrombosis

A change (SNP) in the gene responsible for methylation actually has a major impact on our health. In this case one speaks of aMTHFR polymorphism. This can (and should) be clarified in the laboratory. This is important, among other things, because people with a change in the MTHFR gene have an increased risk of:

Important: A change in MTHFR does not mean that you have any of these indications. It just means your risk is increased. MTHFR changes are common, but they often go undetected. A blood test in the laboratory provides information.

How is an MTHFR change treated?

Your genes, not your destiny. And: MTHFR genes are not the only factors that have an influence on the methylation process. Lifestyle measures help the body with methylation:

  • Regular endurance sport: 45 minutes several times a week, but when choosing the sport, be careful not to put excessive strain on your joints.
  • Reduce obesity
  • Eat a balanced, not too protein-rich diet with lots of vegetables
  • Do not smoke
  • Avoid environmental toxins (read e.g. the ingredients of cosmetic products in this regard)
  • Those affected should avoid folic acid. (see below)

Food supplements are also used in MTHFR treatment:

  • Folate (see below)
  • Other active forms of B vitamins that are involved in methylation. These include vitamin B12, riboflavin, and vitamin B6.

The choice of nutrients and the dosage required will vary from person to person. Last but not least, they also depend on the specific type of gene change, on the medical history and the current symptoms. Your doctor will work out an exact treatment plan with you.

Folic Acid Or Folate: The Differences

Under the term Folate (vitamin B9) is a group of natural compounds that belong to the water-soluble B vitamins. Folic acid is the synthetic form of this vitamin and is used in dietary supplements and in artificially fortified foods. In everyday life, however, these terms are often used synonymously.

The difference: the Folic acid itself is a kind of "preliminary stage". It has no vitamin function and must first be metabolized in the body into the actual vitamin folate.

Individuals with MTHFR polymorphism cannot convert folic acid into folate. It is therefore important not to take folic acid supplements, but rather the already bioactive form of folate 5-MTHF (5-methyl tetrahydrofolate). This applies in particular to pregnant women, breastfeeding women and the elderly who have a higher need for folate.

But it's not just about usability for the organism: If the supplied folic acid is not converted into a usable form, it can lead to an accumulation of Homocysteine come. Homocysteine ​​is an important one per se amino acidbut there is too much of ittoxic for the body.

Folic acid and folate in everyday life

In summary, the recommendation for those affected is:

  • Avoid folic acid
  • Consume plenty of natural folate

The former is relatively easy by not taking folic acid supplements. Also Pregnant womenpeople who are automatically prescribed dietary supplements with folic acid should forego them and take one instead Substitution with 5-MTHF to grab.

The folate supply is poor in many countries. For this reason, for example, in Canada, the United States and many Latin American states, wheat flour is fortified with folic acid in order to prevent an undersupply of the population. For MTHFR-SPN carriers, this means looking for alternatives without Nutrient fortification to see.

Which foods contain folate?

The intake of natural folate is a good foundation. Please clarify with your doctor whether your folate supply is covered by this or whether you need a supplementary folate supplement.

The following foods are rich in natural folates:

  • Leafy green vegetables (like spinach or lettuce, especially endive lettuce)
  • asparagus
  • Avocados
  • Cabbage sprouts
  • Kale
  • legumes
  • Strawberries
  • Edible bran
  • Pork liver

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Nicole Kolisch
Editorial editing:
Silke Brenner

Updated on:

Methylene tetrahydrofolate reductase (MTHFR) polymorphism: https://www.gesundheit.gv.at/labor/laborwerte/blutgerinnung/mthfr-mutation-677ct-mt6771

University Health News Daily: https://universityhealthnews.com/daily/energy/the-mthfr-test-detects-a-genetic-defect-that-may-be-causing-your-fatigue-headaches-depression-and-more /

Supplementation with folic acid and 5-MTHF (Metafolin) moves into the focus of prenatal care: https://medizin-aspekte.de/15261-folsaeure_20899/

Prof. Dr. Dr. med. Johannes Huber, Dr med. Michael Klentze: "The revolutionary Snips method: Recognize genetically determined health risks and take active countermeasures" (Südwest Verlag, 2005)



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