The importance of being tested for mutations in the MTHFR gene

When there is a mutation in the MTHFR gene in an individual, along with another thrombophilic factor (ie. Factor V Leiden), the risk for thrombophilia is greatly increased.

MTHFR stands for Methylenetetrahydrofolate reductase. Another term for MTHFR is NAD(P)H 5,10-methylenetetrahydrofolate.

The MTHFR gene provides instructions that make the enzyme methylenetetrahydrofolate reductase. This enzyme is important because it helps process amino acids and converts 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate.

5-methylenetetrahydrofolate is important because it converts homocysteine to methionine. This conversion is imperative because high homocysteine levels cause narrowing of the arteries and can lead to excessive blood clotting.

There are several polymorphisms (more than one variation) in the MTHFR gene.
Two of the most investigated polymorphisms are the: C677T and the A1298C mutations.

Individuals with the C677T gene mutation suffer from methylenetetrahydrofolate deficiency. This mutation is associated with heart disease, stroke, high blood pressure, high blood pressure during pregnancy (preeclampsia) and hyperhomocysteinemia.

Hyperhomocysteinemia is when there are high levels of homocysteine in the blood. High levels of homocysteine are associated with coronary artery disease and venous thrombophilia (an abnormality of blood coagulation that leads to clotting).

About 10% of the North American population are homozygous (carry two copies of the gene) for this polymorphism.

The A1298C mutation does not lead to elevated homocysteine levels unless the individual also carries the C677T mutation.

To read more about the MTHFR DNA test click here:

  • I have mentioned, several times on this site, that given that Osteonecrosis (Avascular Necrosis) is caused by lack of blood supply to the bone, it is so important for ON (AVN) sufferers to know if and what thrombophilic factors they are carrying in their bodies.

2 thoughts on “The importance of being tested for mutations in the MTHFR gene

  1. I noticed that you take folic acid every day. Should you take Folate instead? My sister has been diagnosed with Osteonecrosis and needs knee surgery. I have the MTHFR mutation that causes clots and take Methyl B12 and Methyl Folate. It has helped me tremendously. I am sending her some. She has always experienced pain in parts of her body during her lifetime and I am wondering if this could be it. – our paternal grandmother died from a blood clot after varicose vein surgery. thanks for sharing!

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