MTHFR:
The MTHFR gene (Methylene-TetraHydroFolate Reductase) provides instructions for making an enzyme that is involved in processing amino acids, the building blocks of proteins, and converting the amino acid homocysteine to another amino acid, methionine. This process requires a B-vitamin called folate (also known as vitamin B9), which is obtained through the diet or supplements.
Some variants of the MTHFR gene can lead to reduced activity of the MTHFR enzyme, which can cause an accumulation of homocysteine in the blood. High levels of homocysteine have been associated with an increased risk of heart disease, stroke, and other health problems. Additionally, low levels of folate can also contribute to elevated homocysteine levels.
There are two common genetic variants of the MTHFR gene, known as C677T and A1298C, which are associated with reduced enzyme activity. These genetic variants are relatively common in the general population and can be detected through genetic testing. However, having these genetic variants does not necessarily mean that a person will develop health problems, as many other factors can also contribute to disease risk
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