Zhang Guangsen, Dai Chongwen
Molecular Hematology Laboratory, The Second Xiangya Hospital of Central South University, Changsha 410011, China.
Zhonghua Xue Ye Xue Za Zhi. 2002 Mar;23(3):126-9.
To investigate the changes of plasma homocysteine (Hcy) level in patients with ischemic cerebrovascular or cardiovascular disease and analyze the relationship between plasma Hcy levels and the mutations in Hcy metabolism related enzymes, including methylene tetrahydrofolate reductase (MTHFR) C677T, cystathionine beta-synthetase (CBS) 844ins68 and methionine synthetase (MS) A2756G.
By using the HPLC-FLD method, the plasma total homocysteine (tHcy) concentration was determined in 86 patients with cerebral infarction, 66 with myocardial infarction and 80 healthy controls. The association of plasma tHcy levels with cardiovascular or cerebrovascular disease and mutations of MTHFR C677T, CBS 844 ins 68 and MS A2756G were evaluated by statistic methods.
In the patient groups, the plasma tHcy concentrations increased significantly as compared with healthy controls. The individuals homozygous for MTHFR C677T mutation had significantly higher plasma Hcy levels.
Hyperhomocysteinemia is an important risk factor for ischemic cerebrovascular and cardiovascular disease. The homozygosity of MTHFR C677T may contribute to the increase of plasma Hcy and vascular damage.
研究缺血性脑血管病或心血管病患者血浆同型半胱氨酸（Hcy）水平的变化，并分析血浆Hcy水平与Hcy代谢相关酶突变之间的关系，这些酶包括亚甲基四氢叶酸还原酶（MTHFR）C677T、胱硫醚β-合成酶（CBS）844ins68和蛋氨酸合成酶（MS）A2756G。
采用高效液相色谱-荧光检测法（HPLC-FLD）测定86例脑梗死患者、66例心肌梗死患者和80例健康对照者的血浆总同型半胱氨酸（tHcy）浓度。采用统计学方法评估血浆tHcy水平与心血管或脑血管疾病以及MTHFR C677T、CBS 844 ins 68和MS A2756G突变之间 的关联。
与健康对照组相比，患者组血浆tHcy浓度显著升高。MTHFR C677T突变纯合子个体的血浆Hcy水平显著更高。
高同型半胱氨酸血症是缺血性脑血管病和心血管病的重要危险因素。MTHFR C677T纯合性可能导致血浆Hcy升高和血管损伤。
