MTR : 5-methyltetrahydrofolate-homocysteine methyltransferase

The MTR Gene and Its Role in Amino Acid Processing

Description:

The Methionine Synthase Reductase (MTR) gene provides instructions for the production of methionine synthase, an enzyme essential for the processing of amino acids, the building blocks of proteins. This enzyme is involved in a specific chemical reaction that converts the amino acid homocysteine into methionine, a crucial amino acid used by the body to synthesize proteins and various vital compounds.

Associated Diseases:

Mutations in the MTR gene have been linked to several health conditions, including:

• Homocystinuria: This rare genetic disorder results in elevated levels of homocysteine, which can damage blood vessels, leading to a wide range of complications such as blood clots, stroke, and heart disease.

• Neural tube defects (NTDs): MTR gene mutations are associated with an increased risk of NTDs, such as spina bifida and anencephaly. These defects occur during fetal development and can have severe consequences for the child's health.

• Autism spectrum disorder (ASD): Studies have found an association between MTR gene polymorphisms and an increased risk of ASD, although the exact mechanism is not fully understood.

Did you Know ?

Approximately 1 in 500,000 newborns is affected by homocystinuria, a disorder caused by mutations in the MTR gene.