The MTRR 66A>G (Ile22Met) polymorphism genetic test analyzes a specific variation in the Methionine Synthase Reductase (MTRR) gene, which plays a crucial role in the methylation cycle and homocysteine metabolism. This test detects a single nucleotide polymorphism (SNP) in exon 2 of the MTRR gene, where an adenine (A) is replaced by guanine (G) at position 66, leading to the substitution of isoleucine (Ile) with methionine (Met) at codon 22. The polymorphism has been associated with impaired enzyme function, reduced methylation capacity, and elevated homocysteine levels, contributing to various metabolic and neurological disorders.
The MTRR gene encodes methionine synthase reductase, an enzyme essential for activating methionine synthase, which catalyzes the remethylation of homocysteine to methionine. Disruptions in this pathway due to the MTRR 66A>G polymorphism may lead to an accumulation of homocysteine, a known risk factor for cardiovascular diseases, neural tube defects, and pregnancy-related complications. Studies suggest that individuals carrying the G allele cannot maintain adequate folate and vitamin B12 metabolism, further influencing DNA methylation and cellular function. The polymorphism has also been implicated in neurodevelopmental conditions, including autism spectrum disorders, and may contribute to cognitive decline in aging populations.
Genetic testing for this variant provides valuable insight into an individual's methylation efficiency and potential predisposition to conditions linked to hyperhomocysteinemia. Identifying the MTRR 66A>G genotype allows a personalized approach to managing folate and vitamin B12 metabolism through targeted nutritional and lifestyle modifications. This test is particularly relevant in the assessment of patients with a history of recurrent pregnancy loss, neural tube defects, or unexplained cardiovascular risk factors.
The genetic testing of MTRR 66A>G Polymorphism is also included in the tests:
