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What is the MTHFR gene?

MTHFR is a gene that provides instructions to produce the methylenetetrahydrofolate reductase (MTHFR) enzyme. The enzyme is important for the production of DNA, construction of amino acids, gene expression regulation and folate synthesis. As is true for any gene, the DNA code of the MTHFR gene can vary. There are two common MTHFR variants (polymorphisms) found in humans and both lead to reduced activity of the MTHFR enzyme that in turn, can result in health problems, including cardiovascular disease and anaemia.

How an alteration in the MTHFR gene can affect your health?


In normal cellular metabolism the molecule called homocysteine acts as an intermediate step in the formation of certain amino acids, which are the building blocks of proteins. Normally homocysteine is short lived and does not accumulate to high levels. However, certain changes in the MTHFR gene can alter the metabolic pathway involved. These alterations impair the function of the MTHFR enzyme that promotes conversion of homocysteine to methionine, another essential amino acid.  As a result, abnormal function of the MTHFR enzyme leads to elevated levels of homocysteine in the blood for some people. It is believed that high levels of homocysteine in the blood can damage the lining of blood vessels and lead to the formation of blood clots. Blood clots are dangerous to your health and if not prevented early can lead to serious health complications such as deep vein thrombosis and pulmonary embolisms. By knowing your chances of developing elevated homocysteine levels which could lead to blood clots, you can adapt your preventable risk factors such as stopping smoking, consuming a balanced diet and increasing physical exercise.


Alterations in the MTHFR gene are also associated with impaired folate processing and can lead to folate deficiency. Folate is a vitamin B needed by the body for various processes such as DNA synthesis, the construction of certain amino acids and production of red blood cells. Folate deficiency can cause an anaemia, a condition where your blood has less red blood cells than normal. As a result your blood cannot deliver enough oxygen to all tissues and organs.

Unfortunately our body cannot produce folate, but it can be found naturally in foods. A simple DNA Test can show variations in the MTHFR gene and knowing your MTHFR status can help to modify your lifestyle, specifically your diet. Foods rich in folate include citrus fruits, broccoli, eggs, leafy greens, nuts, red meat and fish. Some foods may also be fortified with folate, such as cereals.

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