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What is MTHFR Gene Mutation?

  • Alex Chacon
  • Oct 17
  • 2 min read

Updated: Oct 21

Your genes play a key role in how your body processes nutrients, detoxifies chemicals, and produces the neurotransmitters that regulate mood. One gene in particular — MTHFR (methylenetetrahydrofolate reductase) — has become an important focus in mental health and integrative medicine.


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The MTHFR gene mutation refers to a change in the gene responsible for converting folate (vitamin B9) into its active form, known as L-methylfolate (5-MTHF). This active form is crucial for methylation — a process that supports DNA repair, detoxification, and neurotransmitter production.

When this gene isn’t functioning optimally, your body may have difficulty processing folate and regulating homocysteine, an amino acid involved in cardiovascular and metabolic health.


Why It Matters for Mental and Physical Health


Understanding your MTHFR status can provide valuable insight into how your body manages important biochemical pathways. Impaired methylation can influence:


  • Mood regulation – Low methylation can reduce serotonin, dopamine, and norepinephrine activity.

  • Detoxification – Your body may have a harder time clearing toxins or processing medications.

  • Energy levels – Inefficient conversion of folate and B vitamins can contribute to fatigue.


Knowing this information allows you and your provider to personalize your care — from supplement recommendations to medication selection.


Who Might Benefit from MTHFR Testing


Genetic testing can identify MTHFR mutations quickly and easily through a cheek swab or saliva sample. Testing may be especially useful if you experience:


  • Depression or anxiety that hasn’t responded well to SSRIs

  • Chronic fatigue, fibromyalgia, or autoimmune conditions

  • History of recurrent miscarriage

  • Family history of heart disease or blood clots


How to Support Your Methylation Pathway


There’s no “cure” for an MTHFR mutation, but you can support methylation and minimize related symptoms through targeted nutrition and lifestyle choices.


1. Methylated Nutrients

  • L-methylfolate (5-MTHF) – use instead of synthetic folic acid

  • Methylcobalamin (B12) – the active, more absorbable form of B12

  • Pyridoxal-5-phosphate (P5P) – active B6 that supports neurotransmitter synthesis

  • Riboflavin (B2) – helps the MTHFR enzyme function effectively


2. Reduce Homocysteine

  • Support liver detoxification with leafy greens, cruciferous vegetables, and plenty of hydration

  • Consider supplements like TMG (trimethylglycine) or SAMe, if recommended by your clinician


3. Lifestyle Support

  • Avoid synthetic folic acid (common in fortified foods and cheap multivitamins)

  • Eat folate-rich foods like spinach, lentils, avocado, and asparagus

  • Prioritize sleep, stress management, and regular exercise, which all support methylation

  • Limit alcohol, which can impair folate metabolism


Moving Forward with Genetic Insight


At Cave Creek Mental Health & Wellness, we believe that knowledge empowers healing.Understanding your MTHFR status — along with other genetic factors — can help guide your supplementation, medication response, and lifestyle choices for optimal mental and physical well-being.


If you’re curious about your MTHFR gene or want to explore genetic testing, contact our office to schedule a consultation. Together, we can use science-based insight to create a more personalized path to wellness.

 
 
 

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