SOD1基因与运动神经元病相关性的研究进展  

Progress in the relationship between mutant SOD1 and amyotrophic lateral sclerosis.

作　　者：齐新[1] 崔丽英[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院神经科,北京100730

出　　处：《中国实用内科杂志》2009年第5期417-419,共3页Chinese Journal of Practical Internal Medicine

摘　　要：肌萎缩侧索硬化(ALS)是病因不清的变性病,SOD1突变基因与其发生有相关性。SOD1基因突变如何造成运动神经元死亡尚不完全清楚,目前的研究认为SOD1基因造成运动神经元死亡不是由于基因产物功能丧失,而是通过基因产物直接毒性作用或形成聚集体影响细胞功能从而造成运动神经元死亡。虽然ALS中运动神经元死亡具有选择性,然而有多种细胞参与了疾病的发生,本文对SOD1在ALS发病中的作用机制进行了回顾。Amyotrophic lateral sclerosis（ALS） is a progressive neurodegenerative disorder. Mutations in the Cu, Zn-superoxide dismutase（ SODI ） gene cause ALS by an unknown gain-of-function mechanism. Current researches show that diminishing SOD1 mutation enzymatic activity does not account for motor neuron lose in ALS, while direct toxicity of variant SOD1 protein or aggregation of SOD1 protein may impart cell function and cause motor neuron death. Though motor neuron death is selective, other cells also participate in this course. The author reviewed recent advances in the relationship between mutant SOD1 and Amyotrophic Lateral Sclerosis.

关 键 词：肌萎缩侧索硬化 SOD1基因 

分 类 号：R5[医药卫生—内科学]