How to Explain MTHFR to a Patient
MTHFR is simply a gene that makes an enzyme responsible for activating folate (vitamin B9) in your body—think of it as a vitamin processing factory that can run slower in some people.
The Simple Explanation
MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme that converts folate from food into its active form that your body can actually use 1, 2.
Think of it like a factory worker: This enzyme's job is to activate folate so your body can use it to process homocysteine, an amino acid in your blood 3, 2.
The common variants (C677T and A1298C) are extremely common: About 30-40% of people have one copy of the C677T variant, and 10-15% have two copies—this is not a rare "disease" but a common genetic variation 3, 1.
What It Actually Means for Your Health
The variant itself doesn't directly cause problems—what matters is whether your homocysteine levels are elevated 1, 4.
Homocysteine is the key player: When MTHFR works more slowly, homocysteine can build up in your blood, and elevated homocysteine (above 15 μmol/L) is associated with 2-3 times higher risk of heart disease and stroke 3, 4.
However, MTHFR variants account for only about one-third of elevated homocysteine cases—other causes include vitamin B12 deficiency, kidney problems, poor diet, or certain medications 1, 4.
The Testing That Actually Matters
Measuring your homocysteine level is more important than knowing your MTHFR gene status 1, 4.
If your homocysteine is normal (below 10-15 μmol/L), the MTHFR variant likely isn't causing you any problems 3, 4.
Before starting any supplements, we need to check your vitamin B12 levels—this is critical because taking folate alone when you're B12 deficient can mask serious neurological problems 1, 4.
Simple Treatment Approach (If Needed)
If your homocysteine is elevated, treatment is straightforward and safe 1, 4:
Use "methylfolate" (5-MTHF) instead of regular folic acid: This is the already-activated form that bypasses your slower enzyme entirely—it's like giving your body the finished product instead of asking the slow factory to process it 1.
Add vitamin B12 (as methylcobalamin): This provides an additional 7% reduction in homocysteine and works together with methylfolate 1, 4.
Include vitamin B6 and riboflavin (B2): These support other pathways that help process homocysteine 1.
Typical doses: Methylfolate 400-800 mcg daily, B12 1 mg weekly, B6 50 mg daily, and riboflavin as directed 1.
Common Misconceptions to Avoid
MTHFR variants do NOT require blood thinners or anticoagulation—this is a common misunderstanding 1.
Having MTHFR variants doesn't mean you need treatment unless your homocysteine is actually elevated 1, 4.
Regular folic acid from fortified foods and standard multivitamins can still help, but methylfolate works better if you have two copies of the C677T variant 1.
This is not a "mutation" in the scary sense—it's a common genetic variation that many healthy people have without any problems 3, 1.
The Bottom Line
Focus on your homocysteine level, not just the gene test: If homocysteine is normal, no treatment is needed 1, 4.
If treatment is needed, it's simple, safe, and inexpensive: Methylfolate and B vitamins can reduce homocysteine by 25-30% and potentially lower stroke risk by 18-25% 1, 4.
Eat folate-rich foods naturally: Leafy greens, legumes, citrus fruits, and nuts provide natural folates that support healthy homocysteine metabolism 1.