MTHFR is a gene encoding an enzyme involved in folate metabolism. Common variants (C677T, A1298C) can reduce enzyme activity. In women, it is often linked to pregnancy complications, fertility, and mood. However, evidence is mixed: for neural tube defects there is moderate support, but most other claims (e.g., depression, 'detox') are weak or purely mechanistic. A DNA test alone does not reflect actual folate or homocysteine levels – blood biomarkers are essential. Clinical guidelines recommend MTHFR testing only for specific indications (e.g., elevated homocysteine, recurrent miscarriage). Many direct-to-consumer tests overstate its importance. A more evidence-based approach is a balanced diet rich in folate (e.g., leafy greens) and, if deficiency is confirmed, physician-guided supplementation with methylfolate. Caveat: Do not self-diagnose or self-treat without medical advice. Evidence: human-moderate (for neural tube defects), mechanistic/weak for most other claims.
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