MTHFR & GENETIC MUTATIONS

MTHFR & Genetic Mutations

Genetic mutations like MTHFR are more common than most people realize. While they don’t determine your health destiny, they can influence how your body functions on a biochemical level. At the core, these genetic variations can impact how you process nutrients, detoxify, and regulate inflammation, hormones, and neurotransmitters. Functional medicine looks at these genetic factors not as isolated “problems,” but as part of a broader pattern—one that helps us understand your body’s unique needs and how to best support them.

What is MTHFR?

MTHFR (methylenetetrahydrofolate reductase) is a gene that encodes an enzyme responsible for converting folate (vitamin B9) into its active form: 5-MTHF (5-methyltetrahydrofolate). This form is essential for a process called methylation—a fundamental function that helps with:

  • Detoxification (especially in the liver)

  • Neurotransmitter synthesis (mood regulation)

  • Hormone metabolism (estrogen, cortisol)

  • Cardiovascular protection (via homocysteine recycling)

  • Cellular repair and DNA expression

What happens with an MTHFR mutation?

There are two main MTHFR variants: C677T and A1298C. These mutations may reduce enzyme efficiency by up to 30–70%, which affects how well your body uses folate and completes methylation processes.

This doesn’t automatically lead to disease—but it can contribute to symptoms or conditions in combination with other factors like nutrient deficiencies, toxin exposure, or chronic stress.

Common concerns associated with impaired methylation include:

  • Brain fog, low mood, or anxiety

  • Chronic fatigue or low energy

  • Hormonal imbalances or PMS

  • Fertility issues and miscarriage

  • Headaches or migraines

  • High homocysteine levels

  • Sensitivity to chemicals or medications

Functional Medicine Perspective

Functional medicine doesn’t treat the gene—it supports the system. When someone has an MTHFR mutation, we look at the whole picture: symptoms, environment, nutrition, stress, and lifestyle. Genetic information is one piece of a much larger puzzle. Here’s how we approach it:

  • Rather than relying solely on genetic testing, we use it alongside clinical markers that give us real-time insight into how your body is functioning. These may include:

    • MTHFR and other methylation-related SNPs (like COMT, CBS, or MTRR)

    • Homocysteine levels

    • Active folate and B12 (serum or functional markers like MMA)

    • Liver detox pathways

    • Inflammation markers

  • People with MTHFR mutations may not tolerate synthetic folic acid well and often benefit from using active nutrient forms that the body can use directly. These include:

    • 5-MTHF (active folate)

    • Methylcobalamin or adenosylcobalamin (active B12)

    • P5P (active B6)

    • Choline, betaine (TMG), and magnesium

    These nutrients support methylation, detoxification, and homocysteine clearance. Depending on individual needs, we may use supplements or emphasize certain foods.

  • Nutrition plays a central role in supporting methylation, whether or not you have an MTHFR mutation. We focus on:

    Supportive foods:

    • Dark leafy greens (spinach, arugula, romaine)

    • Beets, lentils, and asparagus (natural folate sources)

    • Eggs and liver (rich in choline and B12)

    • Wild-caught fish and seeds (anti-inflammatory support)

    • Brassica vegetables (support detox pathways)

    Things to avoid or limit:

    • Processed foods enriched with synthetic folic acid

    • Excess alcohol, which depletes B vitamins

    • Environmental toxins or non-organic animal products

  • Genes may load the gun, but environment pulls the trigger. Methylation is sensitive to lifestyle, including:

    • Stress – chronic stress can deplete methyl donors

    • Sleep – essential for detox and hormone regulation

    • Movement – supports circulation, lymph, and detox

    • Toxin exposure – we explore ways to reduce everyday burdens from air, water, body care, and food

  • Supplementing for MTHFR is not one-size-fits-all. Some people do well with small doses of methylated nutrients, while others need to go slowly or use alternative support (like hydroxy B12 or lower-dose folate). We start low, go slow, and adjust based on feedback and lab data.

    It’s also important to avoid over-supplementing. More methyl donors doesn’t always mean better—it’s about balance and bio-individuality.

Understanding your MTHFR status is helpful—but it’s just one part of your story. Functional medicine helps make sense of your symptoms, history, and labs to build a personalized plan that supports your body’s unique methylation and detox needs. You are not broken because of your genes. With the right support, you can help your body do what it’s naturally designed to do: adapt, repair, and thrive.