The MTR 2756 A>G (Asp919Gly) polymorphism genetic test examines a single nucleotide variation in the methionine synthase (MTR) gene, a key enzyme in the methionine cycle. This enzyme catalyzes the conversion of homocysteine to methionine using methylcobalamin as a cofactor, playing a crucial role in DNA methylation, synthesis, and repair. The A>G substitution at position 2756 results in an amino acid change from aspartic acid to glycine at codon 919, which has been associated with altered enzyme function and efficiency. Variations in MTR activity impact homocysteine metabolism, influencing methylation capacity and potentially contributing to hyperhomocysteinemia, which has been linked to cardiovascular diseases, neural tube defects, and impaired cognitive function.
Genetic testing for this polymorphism provides insight into individual differences in methylation efficiency and homocysteine regulation, aiding in understanding potential metabolic imbalances. The presence of the G allele has been reported to alter enzyme activity, with studies suggesting possible associations with an increased risk of folate-related disorders and disrupted one-carbon metabolism. Since methionine synthase depends on vitamin B12 for function, polymorphic variations in MTR may interact with cobalamin status, affecting the methylation of homocysteine and overall methyl group availability. Research has explored the implications of this polymorphism in various conditions, including cardiovascular health, neurodegenerative diseases, and pregnancy-related complications, as well as in the broader context of personalized nutrition and metabolic function.
The genetic testing of MTR Gene, 2756 A>G Polymorphism is also included in the tests:
