Have you ever wondered what your MTHFR looks like?

Well, probably not!  MTHFR is an enzyme necessary for proper cardiovascular function. It is critical for proper folate metabolism. Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.

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 elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low.
  • High homocysteine (>13umol/L) may double the risk of developing illness or complications.
  • MTHFR genotyping can provide information about potential causes of elevated homocysteine and approaches for addressing it.
  • Based on MTHFR and homocysteine results, physicians can develop dietary and medical recommendations – increased intake of folate alone or in combination with vitamins B6 and B12 are recommended.
  • Based on results, recommendations for methotrexate dosage can be adjusted.

Risks associated with MTHFR variants that lead to high homocysteine:

    • Cardiovascular Disease
    • Cerebral Vascular Thrombosis (Stroke)
    • Venous and Arterial Thrombosis
    • Methotrexate Toxicity for Cancer Therapy


Anyone with higher levels of homocysteine or increase risks should consider testing so more specific dietary recommendations can be made.

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Blog by Donna Sigmond

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