Understanding MTHFR Gene Mutation Symptoms: Causes and Solutions

How Do I Know if I Have an MTHFR Gene Mutation?

The MTHFR (methylenetetrahydrofolate reductase) gene plays a crucial role in processing folate, a vital nutrient necessary for DNA synthesis, methylation, and neurotransmitter production. A mutation in this gene can impact how the body metabolizes folic acid and folate from food. Inefficient folate processing can potentially lead to a range of health issues. Understanding MTHFR gene mutation symptoms is key to identifying potential insufficiencies and finding effective support.

Luckily, if you suspect you may have an MTHFR mutation, testing is relatively easy. If you recognize yourself in the following symptoms, you can take a test for the mutation. Then find nutritional supplements that bypass the roadblocks that the mutation can cause.

Common Symptoms of an MTHFR Gene Mutation

Individuals with an MTHFR gene mutation may experience a variety of symptoms, depending on the type of genetic variation. Whether the mutation is homo- or heterozygous can affect how efficiently bodies can convert folic acid into its active form. Some of the most commonly reported symptoms include:

• Low Energy – Due to reduced methylation and inefficient folate conversion, individuals may struggle with maintaining balanced energy throughout the day [1].
• Mood Imbalances – Tension, worry, a low mood, and irritability can arise from impaired neurotransmitter production (particularly serotonin and dopamine) [2]. The production of these neurotransmitters requires proper methylation [2].
• Brain Fog and Cognitive Difficulties – Trouble concentrating, memory issues, and mental exhaustion can be symptoms of inadequate folate metabolism [3].
• Cardiovascular Concerns – High homocysteine levels, which are associated with poor methylation, may contribute to an increase in cardiovascular health risks[4].
• Pregnancy Complications and Fertility Challenges – Folate is essential for both normal fertility and healthy fetal development [5,6]. An insufficiency caused by an MTHFR mutation may lead to difficulties both in conception and nurturing a healthy baby to term [5,6].
• Digestive Issues – Some individuals with low functional folate experience symptoms like bloating or poor absorption of nutrients [7].
• Neurological Symptoms – Tingling, numbness, or headaches can be symptoms of insufficient levels of active folate and other B vitamins [8].

What’s Happening in the Body?

The MTHFR enzyme is responsible for converting dietary folate and folic acid into L-methylfolate. L-Methylfolate is the biologically active form of folate that the body can use. When someone has an MTHFR mutation, this conversion process can be inefficient or impaired. It can lead to low functional folate status even with adequate amounts of folic acid from diet or supplements. The diagram below illustrates where enzyme inefficiency can cause a hold-up in the activation of L-methylfolate and subsequent slowing of the methylation process.

Clearly, this L-methylfolate insufficiency can contribute to elevated homocysteine levels, poor detoxification, compromised DNA repair, and reduced production of neurotransmitters that support mood and cognitive function. Even if an individual is consuming folate in food, their body may not be able to use it effectively.

Why Folic Acid Isn’t Enough

Folic acid is the synthetic form of folate found in fortified foods and many supplements. It requires multiple enzymatic steps to be converted into its active form. For those with an MTHFR gene mutation, this process is significantly slowed or blocked. This can lead to a functional folate deficiency despite sufficient dietary intake (as shown in the diagram above).

Because the body cannot efficiently metabolize folic acid, unmetabolized folic acid (UMFA) may build up in the bloodstream. UMFA can interfere with natural folate metabolism and reduce the efficiency of folate-dependent processes [9].

How L-Methylfolate Supplements Can Help

For individuals with an MTHFR mutation, supplementing with L-methylfolate—the bioavailable, active form of folate—can bypass the enzyme conversion issue and provide direct support for methylation and cellular function. Here’s how L-methylfolate supplements may help:

• Supports Mood and Mental Well-Being – Helps synthesize neurotransmitters like serotonin and dopamine, reducing symptoms of tension, extended sadness, and worry [10].
• Promotes Cardiovascular Health – Aids in balancing homocysteine levels, supporting heart and blood vessel function [11].
• Enhances Cognitive Function – Boosts focus, memory, and mental clarity by supporting brain health and neurotransmitter activity [12].
• Optimizes Pregnancy and Fertility Health – Ensures adequate folate levels for fetal development, reducing the risk of neural tube defects and supporting reproductive health [6].
• Improves Energy and Metabolism – Supports red blood cell production, detoxification, and glucose sensitivity, helping to combat fatigue and sluggishness [13].

Choosing the Right Supplement

When selecting an L-methylfolate supplement, look for high-quality, bioavailable options like those offered by MethylPro. Unlike standard folic acid, MethylPro’s L-methylfolate products provide the active form of folate your body can immediately use, ensuring optimal support for methylation and overall health.

If you suspect you have an MTHFR mutation or experience symptoms related to poor folate metabolism, consider speaking with a healthcare provider about testing and whether L-methylfolate supplementation is right for you.

The symptoms of an MTHFR gene mutation can significantly impact quality of life, but targeted nutritional support can help mitigate these effects. Understanding the role of functional folate deficiency in these symptoms highlights why standard folic acid supplementation may not be enough for those with an MTHFR mutation. By choosing L-methylfolate, you can ensure your body gets the folate it needs in a form it can use, supporting optimal health and wellness.

References

1. https://ieeexplore.ieee.org/abstract/document/9678432
2. https://www.frontiersin.org/journals/psychiatry/articles/10.3389/fpsyt.2022.976428/full
3. https://neurolaunch.com/mthfr-brain-fog/
4. https://www.cell.com/heliyon/fulltext/S2405-8440(23)03651-4?uuid=uuid%3Aabd07d62-17d1-4e0d-a3aa-7c11cc68623a
5. https://link.springer.com/article/10.1007/s10815-021-02200-6
6. https://www.tandfonline.com/doi/abs/10.1080/15513815.2020.1775734
7. https://www.mdpi.com/2072-6643/13/11/4036
8. https://www.sciencedirect.com/science/article/abs/pii/S1530891X23003828
9. https://www.cambridge.org/core/journals/british-journal-of-nutrition/article/supplementation-with-6s5methyltetrahydrofolic-acid-appears-as-effective-as-folic-acid-in-maintaining-maternal-folate-status-while-reducing-unmetabolized-folic-acid-in-maternal-plasma-a-randomized-trial-of-pregnant-women-in-canada/A07396C9FBD5A56E4B3D6BCB5D465CBA
10. https://www.thieme-connect.com/products/ejournals/html/10.1055/a-1681-2047
11. https://pmc.ncbi.nlm.nih.gov/articles/PMC9832224/
12. https://nepjol.info/index.php/JPAN/article/view/59429
13. https://link.springer.com/article/10.1186/s12886-023-03149-z