MTHFR gene testing

WHAT DOES THE MTHFR GENE CONTROL?

The MTHFR gene, technically called Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine.

HOW DOES AN MTHFR GENE MUTATION MANIFEST?

Mutations of MTHFR can cause high blood levels of homocysteine. The most common mutation in MTHFR is called C677T. People with two copies of this mutation (i.e. one inherited from their mother and one from their father) are called homozygotes, and are found in 5 ‐ 10% of the population. These individuals are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate. A second mutation in the MTHFR gene, called A1298C, has also been implicated with high levels of homocysteine when found together with the C677T mutation.

WHAT IS THE CLINICAL RELEVANCE OF TESTING THE MTHFR GENE?

High homocysteine levels in the blood are recognised as a risk factor for:

  • Coronary artery disease
  • Venous thrombosis and stroke
  • Type 2 Diabetes and
  • Obesity

High homocysteine levels in the blood have also been associated with:

  • Neural tube defects
  • Recurrent miscarriage
  • Autism Spectrum Disorders
  • Stillbirths
  • Depression and other mood disorders

The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.

WHAT INTERVENTIONS OR MANAGEMENT PLANS MIGHT BE APPROPRIATE FOR A PATIENT WHO TESTS POSITIVE FOR AN MTHFR MUTATION?

Folinic acid supplementation

WHAT COMPANION OR FOLLOW-UP TESTS MIGHT BE USEFUL FOR FURTHER ASSESSMENT?

 

  • Homocysteine
  • Red Cell Folate
  • Vitamin B12
  • 2&16 Urinary Oestrogen Metabolites
  • Salivary Hormone Profile
  • Functional Liver Detoxification Profile (FLDP)

MTHFR_Overview.pdf