MTRR : 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Understanding the MTRR Gene and Its Role in Amino Acid Metabolism

Description

The MTRR gene, short for methionine synthase reductase, harbors instructions for synthesizing an enzyme crucial for the proper functioning of methionine synthase. Methionine synthase, in turn, plays a significant role in amino acid processing, particularly converting homocysteine to methionine. Methionine serves as a vital building block for protein synthesis and various cellular functions.

Associated Diseases

Mutations within the MTRR gene have been linked to rare genetic disorders, including:

• Methionine synthase reductase deficiency: Impairs methionine synthase function, leading to elevated homocysteine levels (hyperhomocysteinemia). This condition can increase the risk of cardiovascular disease, neural tube defects, and other complications.
• CblC homocysteinuria: A severe form of hyperhomocysteinemia caused by mutations in the MTRR gene. It typically appears in infancy and can lead to intellectual disability, physical abnormalities, and other health issues.

Did you Know ?

Hyperhomocysteinemia, a common manifestation of MTRR gene mutations, affects an estimated 1 in 300 individuals worldwide. Its prevalence increases with age and is linked to an elevated risk of cardiovascular disease, particularly among those with a family history of heart problems.