What Is the MTHFR Gene Mutation? A Functional Medicine Perspective

At Sheen Vein (Aesthetics and Functional Medicine), we believe in looking deeper than symptoms to uncover the root causes of health concerns. One genetic factor that often gets overlooked in conventional care is the MTHFR gene mutation.

Many of our patients first hear about MTHFR in a blog post, health group, or from a friend—and they’re not sure what it means or if it’s even relevant to them. Others have been tested and told they have the mutation but haven’t been given a clear plan for what to do next.

Let’s break down what the MTHFR gene mutation is, why it matters, and how functional medicine can help you navigate it.

What Is the MTHFR Gene?

MTHFR stands for methylenetetrahydrofolate reductase—a mouthful, I know. It’s an enzyme that plays a critical role in a process called methylation.

Methylation is like a biochemical “switchboard” that controls many important functions in your body, including:

  • Processing and activating folate (vitamin B9)
  • Converting homocysteine into methionine
  • DNA repair and expression
  • Neurotransmitter production (important for mood and brain health)
  • Detoxification in the liver

When the MTHFR gene has a mutation (also called a variant or polymorphism), it can reduce your ability to efficiently perform methylation. This can impact everything from cardiovascular health to mood regulation.

The Two Main MTHFR Mutations

There are many variations of the MTHFR gene, but the two most studied are:

  1. C677T
  2. A1298C

You can have:

  • No mutation (normal function)
  • One copy (heterozygous) – mild to moderate reduction in enzyme activity
  • Two copies (homozygous) – more significant reduction in enzyme activity

For example:

  • Homozygous C677T can reduce MTHFR enzyme activity by up to 70%.
  • Heterozygous C677T may reduce activity by about 30–40%.

Why the MTHFR Gene Mutation Matters

When MTHFR enzyme activity is reduced, your body may struggle to convert folic acid and dietary folate into their active form, L-methylfolate. This can lead to:

  • Elevated homocysteine levels, which may increase cardiovascular risk
  • Difficulty with detoxification (slower elimination of toxins)
  • Neurotransmitter imbalances, affecting mood and cognitive function
  • Hormonal imbalances (especially in estrogen metabolism)
  • Increased pregnancy complications (miscarriage, neural tube defects)
  • Reduced ability to repair DNA and control inflammation

Common Symptoms and Conditions Linked to MTHFR Mutations

Not everyone with an MTHFR mutation has symptoms—but for some, it can be a piece of the health puzzle. Potentially associated issues include:

  • Chronic fatigue
  • Anxiety or depression
  • Brain fog or memory problems
  • Migraines
  • Recurrent miscarriage or infertility
  • Cardiovascular disease
  • Fibromyalgia or chronic pain
  • Certain autoimmune conditions
  • Elevated homocysteine on bloodwork

How to Test for the MTHFR Gene Mutation

At Sheen Vein (Aesthetics and Functional Medicine), we offer simple genetic testing to identify MTHFR mutations. This can be done with:

  • A cheek swab (saliva test)
  • A blood test

We also pair genetic testing with functional lab work to look at:

  • Homocysteine levels
  • Folate and B12 levels (including active forms)
  • Methylmalonic acid (B12 functional marker)
  • Inflammatory markers
  • Detoxification pathways

Functional Medicine Approach to MTHFR

Here’s the good news: having an MTHFR mutation is not a life sentence. It’s simply one factor in your health story, and there are targeted ways to support your body.

Our approach focuses on optimizing methylation through nutrition, lifestyle, and supplementation.

1. Use the Right Form of Folate

If you have an MTHFR mutation, folic acid (the synthetic form in many supplements and fortified foods) may not convert efficiently. Instead, we recommend L-methylfolate—the active, bioavailable form your body can use directly.

2. Support with Methylated B Vitamins

Methylation depends on several B vitamins:

  • Methylcobalamin (B12) – active form of B12
  • Pyridoxal-5-phosphate (B6) – active form of B6
  • Riboflavin (B2) – supports MTHFR enzyme function

3. Lower Homocysteine Levels

If your homocysteine is high, targeted supplementation with methylated B vitamins and certain amino acids (like betaine/trimethylglycine) can help bring it down, reducing cardiovascular and inflammatory risks.

4. Optimize Detoxification Pathways

Since MTHFR impacts detox, we support the liver with:

  • Cruciferous vegetables (broccoli, Brussels sprouts, cauliflower)
  • Adequate hydration
  • Regular sweating (sauna, exercise)
  • Avoidance of excess alcohol and processed foods

5. Reduce Inflammation and Oxidative Stress

A healthy methylation cycle helps control inflammation. We recommend:

  • Omega-3 fatty acids
  • Antioxidant-rich foods (berries, leafy greens)
  • Gentle, regular exercise
  • Stress-reduction techniques like meditation or yoga

MTHFR and Pregnancy

For women planning pregnancy or currently pregnant, MTHFR status is especially important. Adequate active folate is critical for preventing neural tube defects in the developing baby.

We work closely with expecting mothers to ensure they are:

  • Using the right form of folate (L-methylfolate, not folic acid)
  • Getting adequate B12, B6, and other cofactors
  • Supporting optimal homocysteine levels before and during pregnancy

MTHFR and Mental Health

Methylation plays a big role in neurotransmitter production—serotonin, dopamine, and norepinephrine all depend on it. Some patients with depression, anxiety, or ADHD see significant improvement when their methylation is supported appropriately.

We often combine nutrient therapy with other functional medicine strategies for mental health, including gut health optimization, inflammation control, and lifestyle adjustments.

Why Conventional Medicine Often Misses It

Many conventional providers don’t routinely test for MTHFR unless there’s a history of recurrent miscarriage or high homocysteine. Even when it’s found, patients are often told it’s “not clinically significant” without a deeper evaluation of how it may be influencing their symptoms.

In functional medicine, we see MTHFR as a modifying factor—not the whole story, but a piece that can explain why certain people struggle with fatigue, mood, or chronic illness despite “normal” labs.

Living Well with MTHFR

The key to thriving with an MTHFR mutation is personalized care. By knowing your genetic status, we can:

  • Choose the right supplements for your body
  • Prevent nutrient deficiencies
  • Support optimal methylation and detoxification
  • Reduce your risk for certain health conditions

Final Thoughts

The MTHFR gene mutation affects how your body processes folate and methylates—functions that influence everything from cardiovascular health to mood. While having the mutation can increase certain risks, it can be effectively managed with the right approach.

At Sheen Vein (Aesthetics and Functional Medicine), we use advanced testing and personalized treatment plans to help you understand your MTHFR status and take control of your health.

📍 Serving St. Louis, Sunset Hills, Kirkwood, Webster Groves, and surrounding Missouri communities

📞 Call 314-842-1441 or request your consultation online to learn more about MTHFR testing and functional medicine care.

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