G11778A突变型Leber遗传性视神经病变患者血清总超氧化物歧化酶活力和丙二醛含量的研究

摘要

Objective To determine the serum levels of total supemxide dismutase (SOD) activity and malondialdehyde (MDA), and to evaluate the oxidant-antioxidant status in patients with Leber's hereditary optic neuropathy (LHON) carrying the mitochondrial G11778A mutation.Methods Nineteen patients and 12 carriers from three Chinese G11778A LHON families were enrolled in this study, and 30 agematched healthy volunteers were recruited as normal controls.The serum levels of total SOD activty and MDA in all subjects were measured by xanthine oxidase test and thiobarbituric acid technique, respectively. Results The serum level of total SOD activity in LHON patients was significantly less than that in carriers and normal controls (q=7.085 and 8.351, respectively,both P＜0.05), however, there was no significant difference between the carriers and normal controls (q=0.269.P＞0.05).The serum level of MDA in patients and carriers was significandy higher thah that in normal controls (q=9.069 and 4.748, respectively,both P＜0.05),and it was also significantly higher in patients than that in carriers(q=3.618,P＜0.05).Conclusions Antioxidant capacity decreased significantly in patients with LHON, which indicates that the onset of LHON waft related with the oxidation.antioxidation imbalance.%目的 检测G11778A突变型Leber遗传性视神经病变(LHON)患者血清总超氧化物歧化酶(SOD)活力和丙二醛(MDA)含量并了解LHON患者体内氧化与抗氧化状态.方法 病例对照研究.纳入经眼科检查和线粒体基因测序确诊的G11778A基因突变型LHON患者19例,G11778A基因突变携带者(携带者)12例,正常对照者30例,分别应用黄嘌呤氧化酶法和硫代巴比妥酸法检测受试者血清总SOD活力和MDA含量.应用SPSS 12.0统计学软件包.采用单因素三水平设计定量资料方差分析,分别计算LHON患者、携带者及正常对照者血清总SOD活力和MDA含量的均数及标准差,比较3组受试者间各检测指标的均数差异;若有差异则进行多个均数两两比较的q检验.结果 LHON患者、携带者和正常对照者的血清总SOD活力分别为(22.01±7.21)×103 U/L、(43.44±14.70)×103U/L及(42.70 ±12.51)×103U/L,差异有统计学意义(F=20.875,P＜0.05).LHON患者血清总SOD活力较携带者和正常对照者均明显下降(q值分别为7.085,8.351;均P＜0.05),携带者与正常对照者的血清总SOD活力差异无统计学意义(q=0.269,P＞0.05).LHON患者、携带者及正常对照者的血清MDA含量分别为(10.39±4.38)mmol/L、(7.08±2.51)mmol/L及(2.97±1.81)mmol/L,差异有统计学意义(F=20.109,P＜0.05).LHON患者和携带者血清MDA含量均明显高于正常对照者(q值分别为9.069,4.748;均P＜0.05),LHON患者的血清MDA含量也高于携带者(q=3.618,P＜0.05).结论 LHON患者体内抗氧化能力明显下降,机体氧化与抗氧化系统失衡与LHON患者的发病有关.