MTHFR Gene Test

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


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 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.


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 and depression (and other mood disorders).


The major cause of high homocysteine levels is folate deficiency, however other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene all contribute to this state.  Gene testing is becoming a popular way to assess your risk for this condition and this test is available from your health care professional.