中国临床康复2004，Vol.8Issue(7)：1377-1379,3.
家族性肌萎缩侧索硬化症患者及家系成员血中铜/锌超氧化物歧化酶活性及丙二醛水平变化与临床分型的关系
Relation of clinical type to the content of malondialdehyde and the activity of copper/zinc superoxide dismutase in patients with familial amyotrophic lateral sclerosis and their family members
摘要
Abstract
BACKGROUND:Studies have indicated an association between familial amyotropbic lateral sclerosis(FALS) and copper/zinc superoxide dismutase(Cu/ZnSOD) gene mutation, and various Cu/ZnSOD gene mutations give rise to various clinical features of FALS.Cu/ZnSOD is a key enzyme for eliminating oxygen free radicals, and malondialdehyde(MDA) is an intermediate product of perexilipoid degradation, which indirectly reflects Cu/ZnSOD activity.However,the association of the changes of Cu/ZnSOD and MDA with the clinical features of FALS has not been defined.The understanding of this association may offer assistance of the clinical classification of FALS and diagnosis of subclinical FALS. OBJECTIVE:To study the Cu/ZnSOD activity and MDA content in the blood of patients with FALS and their family members,and to study the clinical classification of FALS. DESIGN:A randomized case-control trial. SETTING and PARTICIPANTS:Thirty-two subjects from 7 families of FALS were enrolled in this study,with the 3 propositi of them definitely diagnosed in the Department of Neurology, he First Affiliated Hospital of Sun Yat-sen Medical University in 1995 and 4 in the Department of Neurology,the First Affiliated Hospital of Guangxi Medical University between 1997 and 1999.The 32 subjects were divided into four groups:of the 27 subjects of Han nationality, 10 with clinical manifestations or abnormal electromyogram(EMG) were assigned into group 1,and the other 17 normal subjects into group 2; of the 5 subjects of Zhuang nationality,3 with clinical manifestations or abnormal EMG were assigned into group 3,and 2 normal subjects without any clinical manifestations into group 4.Another 72 healthy volunteers receiving routine physical examinations in our hospital between January 1999 and December 1999 were also enrolled as controls, including 38 males and 34 females subjects aged 15-59 years with the mean age of 38.2 years. METHODS:Biochemical methods were used to determine Cu/ZnSOD activity and MDA content in the erythrocytes of all subjects. MAIN OUTCOME MEASURES:Cu/ZnSOD activity and MDA content in peripheral blood. RESULTS:In group 1, the activity of Cu/ZnSOD was(316.68± 46.15) μ kat/g,and the content of MDA was(8.08± 1.60) μ mol/L in 100-fold diluted hemolysis solution, and 4 cases had Cu/ZnSOD activity less than the normal level, among which 3 elevated MDA content, but no clinical manifestations were observed. In group 2, the two measurements were(351.74± 28.42) μ kat/g and(6.55± 0.87) μ mol/L,and 2 cases had lowered Cu/ZnSOD activity, and 6 had lowered whereas 3 had elevated MDA content,in comparison with the normal contents.In the above two groups of Han nationality,the 6 subjects with lowered Cu/ZnSOD activity and 3 with elevated MDA contents who came from two families had measurements significantly decreased by about 20% in comparison with those of the other members in the same group.Cu/ZnSOD activity and MDA content were(351.89± 27.92) μ kat/g and(6.68± 0.59) μ mol/L respectively in group 3,and(351.87± 27.96) μ kat/g and(6.61± 0.69) μ mol/L in the group 4,all within the normal range.In the control group, the activity of Cu/ZnSOD and MDA content were(351.84± 26.76) μ kat/g and(6.69± 0.58) μ mol/L respectively, showing a significant difference with the measurements of group 1(F=8.1287,27.8872,P< 0.01).It was suggested that patients in group 1 had clinical FALS classification of ALS1. CONCLUSION:The determination of Cu/ZnSOD and MDA can be used for diagnosis of ALS1 and ALS1 carriers, also applicable in screening Cu/Zn SOD gene mutation and classification of FALS.关键词
肌萎缩侧索硬化/遗传学/Cu-Zn超氧化物歧化酶/血液/丙二醛分类
医药卫生引用本文复制引用
王进,罗杰峰,梁秀龄..家族性肌萎缩侧索硬化症患者及家系成员血中铜/锌超氧化物歧化酶活性及丙二醛水平变化与临床分型的关系[J].中国临床康复,2004,8(7):1377-1379,3.基金项目
广西科技厅自然科学基金资助(桂科自 9731039)及美国中华医学基金会资助 （桂科自 9731039）
