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Understanding the MTHFR Gene Mutation: Symptoms, Natural Support, and Healing Strategies

  • Writer: Rosetta Kawauchi CHHP CTN
    Rosetta Kawauchi CHHP CTN
  • Aug 2
  • 6 min read

Updated: Aug 4

By Rosetta Kawauchi, BCND -Board Certified Naturopathic Doctor / Essence of Healing LLC/ Okemos, MI, USA/ In-Person and Telehealth Appointments Available



In recent years, growing awareness of genetic influences on health has led many individuals to explore how their DNA may affect everything from digestion to mood. One of the most commonly discussed genetic variations today is the MTHFR gene mutation. For some, discovering an MTHFR mutation helps explain persistent health struggles that haven’t responded well to conventional treatments.


As a Board Certified Naturopathic Doctor, I believe in compassionate, holistic, and individualized approaches to health. This article will help you understand what the MTHFR gene mutation is, how it may impact your well-being, and what you can do naturally to support your body.



What is the MTHFR Gene Mutation?


The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a vital role in the methylation cycle, which is essential for detoxification, hormone balance, neurotransmitter production, DNA repair, and cardiovascular function.


There are two common mutations (or polymorphisms) in the MTHFR gene:


  • C677T

  • A1298C


You may inherit one or two copies of these mutations from your parents. Having one mutation (heterozygous) may cause mild changes, while two mutations (homozygous) can significantly reduce enzyme function. The most problematic is often the C677T homozygous variant, which may reduce enzyme efficiency by up to 70%.


When the MTHFR enzyme is impaired, your body struggles to properly convert folate (vitamin B9) into its usable form, L-methylfolate. This disrupts your ability to process homocysteine, a potentially toxic amino acid, and interferes with critical detoxification and neurological processes.



Signs and Symptoms Associated with MTHFR Mutation


It’s important to know that not everyone with an MTHFR mutation will experience symptoms. Lifestyle, environmental exposures, diet, and coexisting genetic variations all influence how the mutation expresses itself. However, if you are experiencing unexplained chronic symptoms, particularly in multiple systems of the body, MTHFR may be worth exploring.


Neurological and Psychological Symptoms


  • Anxiety, irritability, or panic attacks

  • Depression or mood instability

  • Migraines or tension headaches

  • Brain fog or memory problems

  • Sensory processing issues (especially in children)

  • Autism spectrum disorders

  • ADHD or learning difficulties



Cardiovascular and Circulatory Concerns


  • High homocysteine levels (a risk factor for stroke and heart disease)

  • Blood clotting problems

  • Varicose veins or poor circulation



Reproductive and Hormonal Imbalances


  • Recurrent miscarriages or infertility (in men and women)

  • Hormonal mood swings (PMS, perimenopause)

  • Preeclampsia during pregnancy



Digestive and Detoxification Issues


  • Sensitivity to chemicals, smells, or medications

  • Histamine intolerance

  • Irritable bowel symptoms

  • Difficulty detoxifying heavy metals or toxins



Other Common Symptoms


  • Chronic fatigue or fibromyalgia

  • Insomnia

  • Autoimmune conditions

  • Skin conditions such as eczema or acne

  • Inflammation and pain syndromes



Understanding Methylation and Homocysteine


Methylation is a chemical process that happens billions of times per second in the body. It supports:


  • Turning genes on and off (epigenetic regulation)

  • Clearing out environmental toxins and estrogens

  • Producing serotonin, dopamine, and melatonin

  • Regenerating cells and repairing DNA



When methylation is impaired due to MTHFR mutation, you may accumulate toxins and inflammatory substances, including homocysteine, which can damage blood vessels and nerves if not properly cleared.


Testing homocysteine levels through a simple blood test is a helpful tool to evaluate how well your methylation pathways are functioning—even if you haven’t had genetic testing.



Natural Support and Healing Approaches


While genetic mutations cannot be changed, we can support gene expression and methylation through targeted lifestyle and nutritional strategies. Below are gentle, foundational approaches that I recommend in my practice.


1. Choose Methylated Nutrient Forms


People with MTHFR mutations may struggle to process synthetic vitamins, especially folic acid, which is commonly added to processed foods and low-quality supplements.


Instead, choose activated, methylated forms of B vitamins:


  • Folate: L-5-Methyltetrahydrofolate (L-5-MTHF), not folic acid

  • Vitamin B12: Methylcobalamin or Adenosylcobalamin, not cyanocobalamin

  • Vitamin B6: Pyridoxal-5-phosphate (P-5-P)

  • Riboflavin: Riboflavin-5-phosphate (B2 supports MTHFR enzyme)



Introduce these slowly and under guidance. Overmethylation (too much of a good thing) can cause symptoms like anxiety, insomnia, or irritability in some sensitive individuals.


2. Support Detoxification Pathways


MTHFR mutations can impair your ability to clear toxins. Help your body detox gently:


  • Drink plenty of filtered water

  • Include cruciferous vegetables (broccoli, cauliflower, cabbage)

  • Sweat regularly through saunas or exercise

  • Epsom salt baths (magnesium sulfate supports detox and relaxation)

  • Limit exposure to pesticides, BPA, synthetic fragrances, and heavy metals



3. Reduce Homocysteine Naturally


Nutrients and foods that help convert homocysteine into safer compounds include:


  • Choline (eggs, liver, soy lecithin)

  • Magnesium (leafy greens, seeds, legumes)

  • Zinc (pumpkin seeds, shellfish, beef)

  • Trimethylglycine (TMG) or Betaine (beets, spinach, supplements)


Reducing homocysteine may improve cardiovascular health, cognitive clarity, and overall energy.


4. Focus on an Anti-Inflammatory, Whole-Food Diet


Avoid processed, artificial, and fortified foods with synthetic folic acid. Instead, choose:


  • Organic leafy greens (spinach, kale, romaine)

  • Pastured eggs and wild-caught fish

  • Colorful vegetables and fruits

  • Whole grains like quinoa or brown rice

  • Grass-fed meats

  • Fermented foods (sauerkraut, kefir, miso)

  • Healthy fats (avocados, olive oil, flaxseeds)



Sample Meal Ideas to Support Methylation


Breakfast:


  • Scrambled eggs with spinach and mushrooms sautéed in olive oil

  • Sprouted grain toast with avocado

  • Green smoothie with kale, berries, flaxseed, and almond milk


Lunch:


  • Wild salmon salad with mixed greens, beets, cucumbers, and olive oil-lemon dressing

  • Side of quinoa or roasted sweet potatoes


Snack:


  • Handful of pumpkin seeds or Brazil nuts

  • Carrot sticks with hummus


Dinner:


  • Grass-fed beef stir fry with broccoli, red bell pepper, and garlic

  • Brown rice or cauliflower rice

  • Steamed kale with lemon


Beverages:


  • Filtered water with lemon

  • Herbal teas (like nettle, ginger, or dandelion root)



Understanding a Slow COMT


COMT, or catechol-O-methyltransferase, is an enzyme that helps break down neurotransmitters such as dopamine, epinephrine, and norepinephrine. When someone has a slower COMT variant (for example, the Met/Met genotype), these chemicals are broken down more slowly. This can sometimes lead to increased emotional sensitivity, anxiety, or challenges in managing stress.


When a slow COMT variant is present alongside an MTHFR mutation, such as C677T, it may further impact the body’s ability to create and use important methyl groups. These are essential for many functions, including detoxification, mood regulation, and hormone balance. As a result, individuals may experience:


  • Increased anxiety or mood swings

  • Hormonal imbalances

  • Heightened sensitivity to stimulants

  • Difficulty with detoxification



Supportive Approaches


If you or someone you care for has a slow COMT variant, certain nutrients and supplements may offer gentle support:


  • Magnesium (glycinate or threonate): May help soothe the nervous system and support enzyme function

  • L-theanine: Can promote a sense of calm and reduce overstimulation

  • Lithium orotate (in low doses): May help stabilize mood and support methylation pathways

  • SAMe: A methyl donor that should be introduced gradually and with care

  • Adaptogenic herbs: Such as ashwagandha, rhodiola, or holy basil, which may help the body adapt to stress

  • Hydroxycobalamin and folinic acid: These non-methylated forms of B12 and folate are often easier to tolerate than their methylated counterparts



It is always best to introduce these supplements slowly and ideally under the guidance of a healthcare provider familiar with genetic variations and their impact on mental and physical health.



Lifestyle and Emotional Support


Mental and emotional balance are deeply connected to methylation. It’s common for MTHFR clients to experience heightened sensitivity or anxiety. Here are ways to support mind-body wellness:


  • Daily mindfulness or meditation

  • Gentle movement (yoga, walking, tai chi)

  • Journaling or expressive arts

  • Counseling or somatic therapy

  • Adequate sleep hygiene (reduce screens, establish a routine)

  • Gratitude practices or prayer



How to Track Symptoms and Progress


Monitoring how your body responds to dietary or lifestyle changes can be empowering. Consider using a simple tracking journal. Include:


  1. Date and Notes

  2. Mood and Energy


    • Rate on a 1–10 scale

    • Note any highs or lows

  3. Sleep Quality


    • Hours slept, restfulness

  4. Digestive Function


    • Bloating, regularity, food reactions

  5. Supplements Taken


    • Name, dose, time of day

  6. Physical Symptoms


    • Headaches, fatigue, pain, etc.

  7. Stress Levels


    • External stressors, emotional status


Over time, patterns often emerge. This can guide decisions about nutrition, supplementation, and further lab testing.



Testing and Working with a Professional


If you suspect you may have the MTHFR mutation, consider:


  • Genetic testing through a functional medicine provider or direct-to-consumer services (like 23andMe or Genova)

  • Bloodwork to check homocysteine, folate


Does this sound like you? Connect with Dr. Rosetta Kawauchi, Board Certified Naturopathic Doctor for further support.


Phone: 1-517-997-1214



References:


1. Hiraoka, M., & Kagawa, Y. (2017). Genetic polymorphisms and folate status. Congenital Anomalies, 57(5), 142–149. https://doi.org/10.1111/cga.12232

2. Van der Put, N. M. J., Steegers-Theunissen, R. P. M., Frosst, P., Trijbels, F. J. M., Eskes, T. K. A. B., van den Heuvel, L. P., Mariman, E. C., den Heyer, M., Rozen, R., & Blom, H. J. (1995). Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. The Lancet, 346(8982), 1070–1071. https://doi.org/10.1016/S0140-6736(95)91742-4

3. Medical News Today. (2023, February 13). MTHFR mutation: Symptoms, testing, and treatment. https://www.medicalnewstoday.com/articles/326181

4. Parsley Health. (2022, August 24). MTHFR gene mutation: 6 natural ways to manage symptoms. https://www.parsleyhealth.com/blog/mthfr-mutation

5. NourishDoc. (n.d.). MTHFR gene variants, symptoms, natural treatments. https://www.nourishdoc.com/health/mthfr-gene-variants-symptoms-natural-treatments

6. Holistic Health Herbalist. (n.d.). What is MTHFR and how to treat it naturally. https://www.holistichealthherbalist.com/mthfr-treat-naturally

  1. Health Guys. (2019, November 26). Natural treatments to manage MTHFR mutation symptoms. https://healthcareguys.com/2019/11/26/natural-treatments-to-manage-mthfr-mutation-symptoms

  2. Skowron, J. M. (2014). Move over, MTHFR: Time to look at COMT. Naturopathic Doctor News & Review. https://ndnr.com/pediatrics/move-over-mthfr/

  3. National Institute on Alcohol Abuse and Alcoholism. (2008, March 27). Alcohol researchers relate genetic factor to anxiety in women. National Institutes of Health (NIH). https://www.niaaa.nih.gov/news-events/news-releases/alcohol-researchers-relate-genetic-factor-anxiety-women


Disclaimer: Dr. Rosetta Kawauchi BCND – Naturopath is not a medical provider. All written material is for educational purposes only. Dr. Rosetta does not diagnose, prescribe, treat, or cure medical conditions. Please review all natural health recommendations with your licensed medical provider.






 
 
 

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