MTHFR is an enzyme responsible for converting 5,10-methylenetetrahydrofolate to the product 5-methyltetrahydrofolate – it is involved in the metabolism of folate and homocysteine. The product of the reaction catalyzed by MTHFR converts homocysteine (a potentially toxic amino acid) to methionine (a useful and necessary amino acid).
Why is MTHFR Genotyping Important?
- Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.
- Reduced activity can lead to lower Vitamin B12 and folate levels and elevated levels of homocysteine.
- High homocysteine (>13umol/L) may double the risk of developing illness or complications.
- Research has linked mutations in MTHFR to ADD, ADHD and anxiety disorders, as well as depression, insomnia and addictive behaviors
- Based on MTHFR results, providers can develop dietary and medical recommendations; some as simple as supplementation with B vitamins and other methyl modulators
- Based on results, recommendations for methotrexate dosage can be adjusted.
Risks Associated with MTHFR Variants:
- Cardiovascular Disease
- Cerebral Vascular Disease (Stroke)
- Venous and Arterial Thrombosis
- Mental Health Issues
- Methotrexate Toxicity for Cancer Therapy
- Altered Immune Function