Gurney M E, Liu R, Althaus J S, Hall E D, Becker D A
Age (Omaha). 1998 Apr;21(2):85-9. doi: 10.1007/s11357-998-0012-x.
Cu,Zn superoxide dismutase (Cu,Zn SOD) is one of several anti-oxidant enzymes which defend the cell against damage by oxygen free radicals. Mutations of the SOD1 gene encoding Cu,Zn SOD are found familial amyotrophic lateral sclerosis, a progressive and fatal paralytic disease which is caused by the death of motor neurons in cortex, brainstem and spinal cord. The disease can be reproduced in transgenic mice by expression of mutant human Cu,Zn SOD. Recent studies both in vitro and in vivo suggest that the effect of mutation is to enhance the generation of oxygen radicals by the mutant enzyme. Thus, mutation converts a protective, antioxidant enzyme into a destructive pro-oxidant form which catalyzes free radical damage to which motor neurons are uniquely vulnerable.
铜锌超氧化物歧化酶（Cu,Zn SOD）是多种抗氧化酶之一，可保护细胞免受氧自由基的损伤。编码Cu,Zn SOD的SOD1基因突变见于家族性肌萎缩侧索硬化症，这是一种进行性致命性麻痹疾病，由皮质、脑干和脊髓中的运动神经元死亡所致。通过表达突变型人Cu,Zn SOD，可在转基因小鼠中重现该疾病。近期的体外和体内研究表明，突变的作用是增强突变酶产生氧自由基的能力。因此，突变将一种具有保护作用的抗氧化酶转化为具有破坏性的促氧化形式，这种形式催化自由基损伤，而运动神经元对此尤为敏感。
