ABSTRACT
Objective To explore the significance of gene mutations of methylenetetrahydrofolate reductase(MTHFR) C677T,cystathionine ?-synthase(CBS)844ins68,T27796C and methionine synthase (MS A2756G) in the development of brain stroke. Methods There were no obvious differences in age and sex among the four groups. The plasma homocysteine (Hcy) levels of 78 patients with cerebral infarction, 26 patients with cerebral hemorrhage, 29 patients with other neurological diseases and 50 healthy control elders were measured by enzyme-linked immunoassay. Moreover,the genotypes of MTHFRC677T, CBS844ins68, CBST27796C and MSA2756G were detected by PCR-RFLP in four groups. Results The mean plasma Hcy levels in cerebral infarction or in cerebral hemorrhage was significantly higher than those in other neurological diseases or in healthy control elders. The prevalences of CBS 844ins68 and MS A2756G in the cohort studies were obviously lower than those in Caucasian populations. The plasma Hcy level in C677T homozygote mutation was higher than that in wild type or heterozygote. However,heterozygote mutation of CBS T27796C gene reduced Hcy concentration. There were no significant differences in the frequencies of MTHFR,CBS and MS mutations among four groups. Conclusions Hcy might be associated with brain stroke. Moreover,the prevalences of gene mutations of CBS 844ins68 and MS A2756G might vary with different ethnic groups or geographic regions. The homozygosity of MTHFR C677T might contribute to the increase of total plasma Hcy, and CBS T27796C gene heterozygote mutation might lower the raised total Hcy. In addition, four gene mutations are consistent with the law of heredity balance.