The MTRR gene encodes for methionine synthase reductase, an enzyme of the folate cycle that together with MTHFR participates in the reaction of methionine formation from homocysteine.
Gene MTRR
The MTRR gene produces methionine synthase reductase, which is one of two enzymes involved in methionine production. The MTRR enzyme is indirectly involved in the conversion of homocysteine to methionine by activating the MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) enzyme.
Variants in the genes encoding the MTRR enzymes can reduce enzyme activity and consequently increase homocysteine levels in the blood. The presence of certain variants has been associated with an increased predisposition to cardiovascular disease, neural tube development defects and other conditions involving abnormal homocysteine levels.
Genes analyzed
MTRR
Bibliography
Fredriksen A, Meyer K, Ueland PM, et al.Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism. Hum Mutat. 2007 Sep;28(9):856-65.
Li D, Zhao Q, Zhang C, et al.Associations of MTRR A66G polymorphism and promoter methylation with ischemic stroke in patients with hyperhomocysteinemia. J Gene Med. 2020 May;22(5):e3170.
Olteanu H, Munson T, Banerjee R. Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry. 2002 Nov 12;41(45):13378-85.
Rossokha Z, Fishchuk L, Vorobei L, et al. Hyperhomocysteinemia in men and women of married couples with reproductive disorders. What is the difference? Syst Biol Reprod Med. 2023 Feb;69(1):75-85.
Wang J, Ouyang N, Qu L, et al. Effect of MTHFR A1298C and MTRR A66G Genetic Mutations on Homocysteine Levels in the Chinese Population: A Systematic Review and Meta-analysis. J Transl Int Med. 2017 Dec 29;5(4):220-229.
