The MTHFR Mutation: What Is It and How Can It Affect Your Health?

About the 40-60% of the world's population has at least one variant of the MTHFR mutation. In practice, there is a good chance that you yourself are a carrier.

In this article I will explain what the MTHFR mutation is, how to identify if you are affected, and what solutions you can adopt to improve your well-being.

The MTHFR Mutation in Simple Words

The MTHFR gene produces an enzyme that can be imagined as a little factory worker, responsible for transforming raw materials such as folate and homocysteine ​​into finished products useful to our body, namely methylfolate and methionine.

If the gene is mutated, the worker becomes lazy or inefficient, causing a buildup of homocysteine ​​in the blood. This can promote thrombosis, stroke and heart problems , conditions that may already be familiar to you.

The most common mutations of the MTHFR gene are the C677T and the A1298C , which may be present alone or in combination.

How to Identify Symptoms

You always feel exhausted even after a night's sleep ? Mood swings rapidly, feeling out of control?

In particular, do you have anxiety, have trouble remembering things or staying focused?

Do you suffer from unexplained swelling, irritation or food intolerances , unexplained muscle or joint pain, recurrent miscarriages or fertility problems?

All of these symptoms could be related to the MTHFR mutation. Even if they are not specific to this condition, it is important to know about it and perhaps discuss it with your doctor.

MTHFR Mutation Types

There are several configurations of this mutation, each with its own implications:

Heterozygosity

If you have only one mutated gene pair ( heterozygosity ), your body still produces methylfolate and methionine, although in reduced amounts. The worldwide prevalence is 40-50% , and symptoms are often mild or absent. However, you may notice:

• Tiredness
• Difficulty concentrating
• Mood swings
• Difficulty sleeping

Cardiovascular risk increases slightly, but can be managed with vitamin supplements B9 and B12 in active form .

Homozygosity

If both pairs of the gene are mutated ( homozygosity ), the situation is more serious. The MTHFR enzyme works at 30% or less of its normal capacity, causing high homocysteine ​​in the blood and difficulty metabolizing folates. The prevalence of this mutation is 5-10% in Europe. Symptoms include:

• Chronic fatigue
• Increased risk of thrombosis
• Anxiety and depression
• Mental fog
• Fertility problems

Compound Mutation

The compound mutation involves one copy mutated for C677T and one for A1298C. The enzyme works, but with reduced efficiency. The prevalence in Europe is 5-15% . Symptoms can vary, but often include a combination of those of other forms, such as tiredness and mood swings.

A Metaphor to Understand Better

Imagine your brain as an orchestra. Catecholamines, which include dopamine, adrenaline, and noradrenaline, are like the musicians that keep the rhythm and harmony.

These neurotransmitters regulate emotions, concentration, stress response, and even energy.

In a body without mutations, the MTHFR gene helps keep the orchestra in balance, that is, it cleans up excess catecholamines when they are no longer needed. But when there is a mutation, they accumulate and we have a problem.

How The MTHFR Mutation Affects Your Mental Well-Being

One of the lesser-known but important consequences of the MTHFR mutation is difficulty metabolizing chemicals in the brain, particularly catecholamines , such as dopamine, adrenaline, and noradrenaline. With the mutation, they can accumulate and cause anxiety, depression and insomnia .

How to Test for MTHFR Mutation

The first step is consult your GP and discuss your symptoms. If deemed clinically necessary, you may be given an MTHFR genetic test via blood or saliva tests.

If your doctor does not feel it is necessary to order the test, you can have the test done in a private genetic laboratory. Remember to bring a detailed list of your symptoms to help your doctor make an accurate assessment.

Solutions: Active Vitamin Integration

One of the most effective ways to manage the MTHFR mutation is to supplement with vitamins active B9 (methylfolate) and B12 (methylcobalamin).

These forms are already ready for use by the body and do not require conversion, which is especially useful for those with the MTHFR mutation. Active vitamins are not only better for those with the MTHFR mutation but can be a safer choice for everyone because they are absorbed better and faster, reducing the risk of accumulation of potentially harmful metabolites.

Effects of Active B Vitamin Supplementation

Supplementing with active B vitamins has several benefits:

• Increased energy levels : You will gradually feel an improvement in your vitality.
• Mood stabilization : reducing mood swings and anxiety.
• Improved mental clarity : greater concentration and memory.
• Optimization of digestive function : reduction of bloating and food intolerances.
• Improved sleep quality : facilitating a good night's rest.

Practical Tips for Managing the MTHFR Mutation

If you suspect you have the MTHFR mutation, here are some practical steps to follow:

1. Consult your GP : Talk about your symptoms and ask if genetic testing might be helpful.
2. Get a genetic test : You can get a test done with a blood test or a saliva test. If your health insurance doesn't cover the test, consider a private genetics lab.
3. Start supplementing with active vitamins B9 and B12 : Follow your doctor's instructions for doses and methods of intake.
4. Monitor Symptoms : Keep a symptom diary to document your progress and make adjustments as needed.
5. Get regular checkups : Continue to get regular checkups with your doctor to monitor your homocysteine, B12, and B9 levels.

Conclusion

If you suspect you have the MTHFR mutation, consult your doctor to assess the need for genetic testing and consider supplementing with active vitamins B9 and B12.

Documenting your progress through a symptom diary and checking in with your doctor regularly can help monitor the effectiveness of your treatment.

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Greetings from Dr. Luca!