Oxidative stress has been described as a putative disease mechanism in pathologies associated with an elevation of homocysteine. An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders of cobalamin metabolism, particularly with methylmalonic aciduria (MMA) combined with homocystinuria cblC type. In this work, we have evaluated several...

PURPOSE A meta-analysis was performed to determine the association between MTRR A66G polymorphism and colorectal cancer (CRC) susceptibility. METHODS Based on comprehensive searches of the MEDLINE, EMBASE and ISI Web of knowledge, China National Knowledge Infrastructure (CNKI) and Wanfang Database, we identified eligible studies about the association between MTRR A66G polymorphism and CRC sus...

BACKGROUND Folate plays a pivotal role in DNA synthesis, repair, methylation and homocysteine (Hcy) metabolism. Therefore, alterations in the folate-mediated one-carbon metabolism may lead to abnormal methylation proliferation, increases of tumor/neoplasia and vein thrombosis/cardiovascular risk. The serine hydroxymethyhransferase (SHMT), methionine synthase (MS), methionine synthase reductase ...

Ventricular septal defect (VSD) is one of the most common types of congenital heart defects (CHD). There are vivid multifactorial causes for VSD in which both genetic and environmental risk factors are consequential in the development of CHD. Methionine synthase reductase (MTRR) and methylenetetrahydrofolate reductase (MTHFR) are two of the key regulatory enzymes involved in the metabolic pathw...

BACKGROUND Homocysteine is known to be an independent risk factor for congenital heart disease (CHD). Methionine synthase reductase (MTRR) is essential for the adequate remethylation of homocysteine, which is the dominant pathway for homocysteine removal during early embryonic development. METHODS AND RESULTS Here, we report that the c.56+781 A>C (rs326119) variant of intron-1 of MTRR signifi...

The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon. We hypothesized that other splicing regulatory elements (SREs) are also critical for MTRR pseudoexon inclusion. We demonstrate that the MTRR pseudoexon is on the verge of being recognized and is therefore vulnerable to several...

A hospital-based case-control study was conducted to evaluate the significance of methionine and folate related polymorphisms, with 72 colon and 70 rectal cancer cases and 241 non-cancer controls. The polymorphisms examined were in the genes for methionine synthase reductase (MTRR A66G), methionine synthase (MTR A2756G) and methylenetetrahydrofolate reductase (MTHFR C677T and A1298C). An uncond...

BACKGROUND Differences in the distribution of the MTRR rs326119 polymorphism (c.56 + 781 A > C) between patients with congenital heart disease (CHD) and controls have been described in Chinese individuals. The association is thought to be due to deregulation of homocysteine-cobalamin pathways. This has not been replicated in other populations. The primary objective of this study was to assess t...

OBJECTIVES To elucidate loci in Neisseria gonorrhoeae implicated in reduced susceptibility to ceftriaxone. METHODS N. gonorrhoeae isolates were collected in Shanghai, China, in 2005 and 2008. Twenty-eight isolates with reduced susceptibility to ceftriaxone (CRO(Red); MIC = 0.125-0.25 mg/L) were studied for mutations in PorB (porB), MtrR (mtrR), PBP2 (penA) and PBP1 (ponA). The mutation profil...

Single-dose azithromycin therapy has recently been used in Uruguay for the treatment of uncomplicated gonococcal infections. As part of an active surveillance study to monitor the emergence of antibiotic resistance in gonococcal isolates, we examined the levels of azithromycin susceptibility in 51 consecutive isolates obtained from males with uncomplicated gonococcal urethritis. Isolates with d...