MTHFR Gene Mutation: Symptoms, Management, and Best Diet Tips

Written by Angie Arriesgado
featured image for blog on mthfr gene mutation

The MTHFR gene mutation is a common genetic variation that can disrupt how your body processes important nutrients, like folate. When this gene isn’t working as it should, it can lead to health issues. But don’t worry—we’ve got your back! We’re diving into the symptoms, easy management tips, and how our 5-MTHF supplement may help things run smoothly. Let’s get started!

What is an MTHFR gene mutation?

Let’s start with the basics. The MTHFR (short for methylenetetrahydrofolate reductase) gene is like your body’s instruction manual for processing folate, a vital B vitamin. 

Folate is essential for blood formation, homocysteine metabolism, immune function, reducing tiredness and fatigue, and more. 1 However, if there’s a mutation in this gene—like the common C677T or A1298C variants—it can slow down the process, leading to less efficient folate conversion. 2

So, what does that mean for you? 

If your body isn’t processing folate effectively, it could lead to various health issues, from fatigue to more serious conditions like stroke. 3 But knowing you have this mutation is the first step in managing it effectively, which is exactly what we’ll cover in this blog. 

What are the common symptoms of MTHFR gene mutation?

Now that you know what the MTHFR gene mutation is, let’s talk about how it might show up in your life. Symptoms can vary widely, and not everyone with the mutation will experience issues, but here are some common ones to watch out for:

Fatigue and brain fog

If you’re constantly feeling tired or struggling to focus, your body might not be converting folate efficiently, which can lead to low energy and cognitive issues. 4

Mood swings, anxiety, and psychiatric issues

Folate is crucial for neurotransmitter production. A folate deficiency can lead to mood-related symptoms like anxiety, depression, or irritability. Moreover, recent studies show that MTHFR mutations, particularly C677T, may be linked to an increased risk of schizophrenia, major depression, and bipolar disorder. 5

Migraines

Some people with MTHFR mutations report frequent migraines, possibly due to issues with blood flow or neurotransmitter imbalances. 4

Cardiovascular problems

Elevated homocysteine levels, which can occur with MTHFR mutations, are linked to an increased risk of heart disease and stroke. 3 6

Homocystinuria

This is a rare but serious condition that can occur with severe MTHFR mutations. It leads to extremely high levels of homocysteine in the blood, which can cause a range of problems, including developmental delays, vision issues, and an increased risk of blood clots. 7

If any of these symptoms sound familiar, it might be worth discussing MTHFR testing with your doctor. Understanding your genetic makeup can be a key step in managing these symptoms effectively.

Can supplements help manage an MTHFR gene mutation?

Yes, supplements may play a crucial role in managing an MTHFR gene mutation, especially when you choose the right ones. Here’s how:

Start with methylfolate (5-MTHF) instead of folic acid

If you have an MTHFR mutation, your body may struggle to convert synthetic folic acid into the active form of folate it can use. That’s why it’s important to supplement with methylfolate or 5-MTHF (5-methyltetrahydrofolate), the bioactive form of folate. 

Here’s an infographic to help you understand the differences between folate, folic acid, and 5-MTHF.

the different forms of vitamin B9 - folate vs folic acid vs 5-mthf

As the infographic shows, 5-MTHF is the best folate for MTHFR. It’s stable, easily absorbed, bioactive, and doesn’t mask a vitamin B12 deficiency or cause unmetabolized folic acid. Plus, it’s specifically formulated to support those with MTHFR mutations.

Consider taking other bioactive B vitamins 

People with MTHFR mutations often struggle with high homocysteine levels, which can increase the risk of heart disease. 8

Taking other B vitamins, especially B6 and B12 in their active forms (like pyridoxal-5-phosphate for B6 and methylcobalamin for B12) may help. These active B vitamins help lower homocysteine directly, bypassing the inefficient conversion process typical in MTHFR mutations. 9

Can an MTHFR diet help manage symptoms?  

Beyond supplements, lifestyle changes can make a big difference in managing an MTHFR gene mutation. In addition to reducing stress and getting regular exercise, the right diet is crucial. 

Which foods should you eat on an MTHFR diet?  

Focus on natural, whole foods that are rich in natural folate (here’s our list of the best folate-rich foods in 8 categories). Think leafy greens like spinach, kale, and romaine lettuce.  

Other great options include avocados, asparagus, broccoli, and beans. These foods provide the bioavailable form of folate your body can use without needing to convert it. 

Additionally, eating plenty of clean proteins like eggs, organic chicken, and wild-caught fish helps support your body’s overall methylation process.

Which foods should you avoid if you have an MTHFR mutation? 

Steer clear of anything fortified with synthetic folic acid—this includes many processed foods like white bread, cereals, and packaged snacks. Your body might not process synthetic folic acid efficiently, which can lead to an accumulation of unmetabolized folic acid in your system. 

It’s also a good idea to limit your intake of alcohol, as it can interfere with folate metabolism. 10

What does a simple MTHFR diet plan look like?

For breakfast, try a spinach and avocado smoothie with a side of eggs, or this all-in-one breakfast that’s so easy to prepare. Then take a capsule of our Intelligent Labs 5-MTHF Activated Folic Acid with a glass of water. 

Lunch could be a big leafy green salad with oregano chicken and a sprinkle of nuts, or a quinoa bowl topped with roasted vegetables and a squeeze of lemon.

For dinner, enjoy roasted snapper with steamed broccoli and quinoa, or try grilled turkey breast with creamed spinach and sweet potatoes. Snacks can include fresh fruit, nuts, a handful of seeds, or veggie sticks with hummus.

What else should you know about living with an MTHFR gene mutation?

If you’re just learning about MTHFR gene mutations, you probably have a few more questions. Here are some quick answers to common concerns:

  • Should you get tested? If you suspect you have symptoms related to MTHFR or have a family history, it might be worth discussing testing with your doctor. A simple genetic test can give you the answers you need.
  • Can lifestyle changes really make a difference? Absolutely! While you can’t change your genes, you can influence how they affect your health through diet, supplements, and lifestyle adjustments.
  • What about pregnancy? For pregnant women or those planning to conceive, managing an MTHFR mutation is a must. Adequate 5-MTHF intake is essential for prenatal health

Conclusion

Living with an MTHFR mutation might require a few extra steps, but with the right knowledge and approach, you can manage it effectively and feel your best. Focus on a folate-rich diet, consider key supplements like our 5-MTHF Activated Folate, and make lifestyle changes to support your health.


References:

  1. “Food and Feed Information Portal Database | FIP.” Ec.europa.eu, ec.europa.eu/food/food-feed-portal/screen/health-claims/eu-register. ↩︎
  2. Dean, Laura. “Methylenetetrahydrofolate Reductase Deficiency.” Nih.gov, National Center for Biotechnology Information (US), 27 Oct. 2016, www.ncbi.nlm.nih.gov/books/NBK66131/. ↩︎
  3. Bennett, Derrick, et al. “MTHFR and Risk of Stroke and Heart Disease in a Low-Folate Population: A Prospective Study of 156 000 Chinese Adults.” International Journal of Epidemiology, 28 Oct. 2023, https://doi.org/10.1093/ije/dyad147. ↩︎
  4. Oberg, Erica, et al. “Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate.” Journal of Nutrigenetics and Nutrigenomics, vol. 8, no. 3, 2015, pp. 137–150, https://doi.org/10.1159/000440700. ↩︎
  5. Zhang, Yu-Xin, et al. “Association between Variants of MTHFR Genes and Psychiatric Disorders: A Meta-Analysis.” Frontiers in Psychiatry, vol. 13, 18 Aug. 2022, https://doi.org/10.3389/fpsyt.2022.976428. ↩︎
  6. Klerk, Mariska, et al. “MTHFR 677C→T Polymorphism and Risk of Coronary Heart Disease.” JAMA, vol. 288, no. 16, 23 Oct. 2002, p. 2023, https://doi.org/10.1001/jama.288.16.2023. ↩︎
  7. “Homocystinuria due to Methylene Tetrahydrofolate Reductase Deficiency | about the Disease | GARD.” Nih.gov, 2024, rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-methylene-tetrahydrofolate-reductase-deficiency. ‌ ↩︎
  8. Cleveland Clinic. “Homocysteine: Levels, Tests, High Homocysteine Levels.” Cleveland Clinic, 7 May 2021, my.clevelandclinic.org/health/articles/21527-homocysteine. ↩︎
  9. Evgeny Pokushalov, et al. “Effect of Methylfolate, Pyridoxal-5′-Phosphate, and Methylcobalamin (SolowaysTM) Supplementation on Homocysteine and Low-Density Lipoprotein Cholesterol Levels in Patients with Methylenetetrahydrofolate Reductase, Methionine Synthase, and Methionine Synthase Reductase Polymorphisms: A Randomized Controlled Trial.” Nutrients, vol. 16, no. 11, 21 May 2024, pp. 1550–1550, https://doi.org/10.3390/nu16111550. ↩︎
  10. Medici, Valentina, and Charles H. Halsted. “Folate, Alcohol, and Liver Disease.” Molecular Nutrition & Food Research, vol. 57, no. 4, 8 Nov. 2012, pp. 596–606, https://doi.org/10.1002/mnfr.201200077 ↩︎

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