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The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is involved in a chemical reaction that converts a molecule called 5,10-methylenetetrahydrofolate to another molecule called 5-methyltetrahydrofolate. This reaction is necessary for the synthesis of a compound called S-adenosylmethionine, which is used in many processes in the body, including the synthesis of certain neurotransmitters and the regulation of DNA.

Mutations in the MTHFR gene can cause a deficiency in the enzyme methylenetetrahydrofolate reductase, which can lead to an accumulation of 5,10-methylenetetrahydrofolate in the body. This can interfere with the synthesis of S-adenosylmethionine and other compounds, leading to an increased risk of certain health problems.

MTHFR mutations have been linked to an increased risk of developing blood clots, stroke, and certain birth defects, as well as an increased risk of developing conditions such as heart disease, high blood pressure, and certain types of cancer.

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