The causes of MTHFR gene mutation

MTHFR (Methylenetetrahydrofolate Reductase) test is also known as MTHFR gene mutation or MTHFR DNA testing. The most imperative reason for getting MTHFR test done is to diagnose the cause of increased homocysteine levels, and sometimes to also help ascertain the likelihood of thrombosis or premature cardiovascular disease (CVD). A person with a close relative suffering from MTHFR gene mutation is more likely to have increased/elevated homocysteine levels; or when any of their family members have had developed CVD or thrombosis earlier in their life.


The methylenetetrahydrofolate reductase (MTHFR) gene contains the intrinsic DNA code to produce the MTHFR enzyme. The MTHFR enzyme is basically responsible for the metabolism of a form of vitamin B folate, to another form of the vitamin. The same enzyme also is critical for conversion of homocysteine into methionine which forms a basic unit for many forms of protein.

Detection of MTHFR

The MTHFR test is usually taken by collecting a blood sample from a vein in the arm of a person. The test is capable of detecting two very common mutations. If there are mutations or any kinds of variations found in the MTHFR gene, they can cause grave genetic diseases. Some of the disorders include spina bifida, homocystinuria, and anencephaly among others.

Once elevated levels of homocysteine are detected in a person’s bloodstream, it translates into their body being unable to process the additional homocysteine. The causes of the increased homocysteine levels could mean a mutation in their MTHFR gene, thereby causing homocystinuria. There are about seven different, genetically unique MTHFR mutations. However, these are basically two relatively common DNA sequence variants, called C677T and A1298C. An individual suffering from homocystinuria may inherit either of the two or both variants. These single nucleotide polymorphisms are also associated with causing stroke in a lot of patients.

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