🧬 The MTHFR Gene: What It Is, Why It Matters for Hypermobility and Neurodivergence — and How to Work With It

Maya Illipse
Jul 21
5 min read

At ParaMotion, we’re passionate about bridging the gap between science, movement, and the lived experience of people with hypermobility and neurodivergence. That means looking at emerging research and asking meaningful questions — not just about what we experience, but why.

One piece of this puzzle that’s gaining attention in both clinical and patient communities is the MTHFR gene. While it’s often surrounded by confusion or oversimplification, understanding how this gene works — and how it might influence things like inflammation, energy, mood, and connective tissue health — can help many people better understand their own bodies.

Let’s break it down in a clear, validating way: What is MTHFR? How does it relate to neurodivergence and hypermobility? Why are they connected? And what can you actually do about it?

🌱 What Is the MTHFR Gene?

MTHFR (short for methylenetetrahydrofolate reductase) is a gene that provides instructions for making an enzyme — also called MTHFR — that helps your body process folate (vitamin B9) into its active, usable form. This process is key to something called methylation, which helps regulate:

Detoxification
Hormones
Inflammation
DNA repair
Production of neurotransmitters like dopamine, serotonin, and norepinephrine

🧠 Think of methylation as a master switchboard that helps regulate how your body and brain function.If you have a variant in the MTHFR gene, the enzyme works less efficiently — like a dimmer switch turned down. This can affect physical and mental health in ways that are subtle, cumulative, and confusing.

📊 How Common Are MTHFR Variants?

MTHFR variants are very common, but they’re still under-recognized — especially in people with chronic or complex conditions.

An estimated 30–50% of the general population has a variant of the MTHFR gene
About 10–15% have two copies (homozygous), which typically has stronger effects
In 2024, researchers at Tulane University studied 157 patients—all diagnosed with either hEDS or HSD—and found that:
- 85% of them had at least one variant (C677T or A1298C) in the MTHFR gene
- And 41% had two copies (either homozygous or compound heterozygous)

This means people in the hypermobile community are far more likely to carry variants that can have real biochemical impact.

⚠️ Important: Having an MTHFR variant doesn’t mean you’ll automatically have symptoms — but it can make your body more sensitive to stress, toxins, inflammation, and nutrient deficiencies.

🧩 How MTHFR Connects to Neurodivergence and Hypermobility

This is where the picture comes together for many of us.

1. Neurotransmitter Imbalance

Methylation is essential for producing and breaking down dopamine, serotonin, and norepinephrine — which affect mood, focus, emotional regulation, and sensory processing. Many neurodivergent folks (with ADHD, autism, OCD, etc.) experience imbalances in these areas.

2. Tissue Repair and Collagen Function

Methylation also impacts how well your body repairs connective tissue, including collagen. When this process is compromised, it may contribute to joint laxity, poor tissue healing, and the chronic pain seen in hypermobility.

3. Detox and Sensory Sensitivity

A sluggish methylation cycle may make it harder to clear environmental toxins, histamine, and metabolic byproducts— which can heighten reactivity to smells, food, supplements, medications, and even emotions.

📍 This is where MTHFR overlaps with things like MCAS (mast cell activation syndrome) and histamine intolerance, which are also common in the hypermobile + neurodivergent population.

🔍 How Can You Know If You Have an MTHFR Variant?

🧬 The most reliable way:

The most direct way to know if you have an MTHFR variant is through a genetic test, either through a medical lab, or services like 23andMe or AncestryDNA (with raw data analysis). The most studied variants are C677T and A1298C — and even having one copy can affect how your body processes folate.

But what if you can’t access genetic testing right now?There are still other blood tests that can give you helpful clues:

Homocysteine: If this is elevated, it may mean your methylation process isn’t working well.
Serum folate: This shows how much folate is in your blood — but high levels might actually mean it’s not being converted into active folate properly.
Vitamin B12: Works together with folate; low levels can worsen symptoms.
Methylmalonic acid (MMA): A more accurate marker for B12 deficiency, often tested alongside homocysteine.

These labs are often available through standard doctors, and even just measuring homocysteine + B12 can give you a good sense of whether to try active forms of nutrients (like L-methylfolate or methylcobalamin) to support your body.

📋 Possible Signs of Methylation Issues

Here are some signs that methylation might be struggling — and that MTHFR could be one factor:

Chronic fatigue or burnout
Brain fog or poor memory
Mood swings, anxiety, or depression
B12 or folate deficiency (even with a good diet)
Difficulty detoxing (feel worse after drinking alcohol, exposure to chemicals, etc.)
Histamine intolerance (itchiness, rashes, congestion after food)
Sensitivity to medications or supplements
Hormonal imbalances or irregular cycles
Trouble recovering after illness or exercise
Miscarriages or fertility issues
High homocysteine on a blood test (ask your doctor)

🌀 Note: All of these can also be part of MCAS, EDS, trauma responses, or just daily life in a neurodivergent body. That’s okay. The body is complex. We’re not here to label — we’re here to support.

Why Knowing This Matters to You

You may find validation: You're not "just sensitive" or "just anxious"—there's real chemistry behind your experiences
You can advocate better: Knowing the mechanism means you can ask for tests, communicate clearly with doctors, and feel less lost
You can support your body intelligently: targeted supplements and lifestyle changes won't feel like guesswork
It gives direction and dignity to your journey: you're gathering evidence, not convincing others with feelings

🧘‍♀️ How to Support Methylation in Daily Life and Movement

If you have confirmed MTHFR variants or elevated homocysteine, supporting with the right forms of nutrients may help:

L‑methylfolate (active folate (B9))
Methylcobalamin (active B12)

💡 Start low, go slow, and work with a practitioner if possible.

You can support your body’s natural methylation and detox pathways:

Lifestyle:

Prioritize hydration (with minerals)
Eat leafy greens, eggs, beets, liver (if tolerated), and clean protein
Avoid synthetic folic acid (read labels on cereal, bread, and vitamins)
Reduce exposure to synthetic fragrances and chemicals
Build in rest + decompression time daily

Movement:

Choose slow, mindful movement to reduce nervous system overload
Focus on joint stability and proprioception (your sense of where you are in space)
Avoid overtraining — small, consistent movement is better than boom-bust cycles
Include breathwork and nervous system regulation tools

💚 Final Thoughts

MTHFR is not a diagnosis, but it is a missing piece for many people.

If you’re neurodivergent, hypermobile, or living with complex symptoms — learning about your methylation pathways may help bring clarity and relief.

Whether or not you test, you deserve answers. And support. And hope.

If you’d like help creating a movement plan that supports your body’s methylation, nervous system, and connective tissue needs — reach out.You don’t have to figure it out alone. 👉 [Book your Free 15 mn call here!!]