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MTHFR Genotyping

What is MTHFR?

MTHFRMTHFR stands for Methylenetetrahydrofolate Reductase, an enzyme responsible for converting 5,10-methylenetetrahydrofolate to the product 5-methyltetrahydrofolate Рa substance involved in the metabolism of folate (vitamin B9) 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).

What is MTHFR gene?

MTHFR gene is a piece of DNA located on chromosome 1 that provides instructions for making an enzyme called methylenetetrahydrofolate reductase.

Why is MTHFR Genotyping Important?

Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity. Reduced MTHFR activity can lead to elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low. High homocysteine levels 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.

What are the risks Associated with MTHFR Variants/High Homocysteine?

  • Cardiovascular disease
  • Cerebral vascular disease (Stroke)
  • High blood pressure
  • Venous and arterial thrombosis
  • Glaucoma
  • Psychiatric disorders
  • Certain types of cancer
  • Homocystinuria
  • Methotrexate toxicity for cancer therapy
  • Pregnancy complications and birth defects
    • High blood pressure during pregnancy (preeclampsia)
    • Anencephaly
    • Spina bifida

Who Should be Tested?

  • Individuals¬†with high homocysteine levels
  • Individuals¬†who have a familial history of cardiovascular disease, stroke or thrombosis
  • Candidates for long-term methotrexate therapy

How can the results of MTHFR genotyping help?

Based on MTHFR and homocysteine results the doctor can develop dietary and medical recommendations Рincreased intake of folate alone or in combination with vitamins B6 and B12. Methotrexate dosage may need to be adjusted.

Where can I learn more about MTHFR?

https://ghr.nlm.nih.gov/gene/MTHFR#conditions