Fiszman M L, Borodinsky L N, Ricart K C, Sanz O P, Sica R E
Laboratorio de Neurociencias, Centro de Investigaciones Médicas Albert Einstein, Fundación CIMAE, Buenos Aires, Argentina.
J Neurol Sci. 1999 Jan 1;162(1):34-7. doi: 10.1016/s0022-510x(98)00272-x.
Amyotrophic lateral sclerosis (ALS) is a progressive disorder resulting from degeneration of motor neurons in the brain and spinal cord. Sporadic ALS (SALS) accounts for the majority of patients and the familial form (FALS) represents fewer than 10% of all cases. Since it was found that there are Cu/Zn superoxide dismutase (SODI) gene mutations in 20% of FALS patients and that FALS and SALS patients show similar clinical features, it has been postulated that both may share a common physiopathological mechanism. We studied Cu/Zn SOD1 activity in cytosolic extracts of erythrocytes from 125 normal individuals and 40 SALS patients. We found that enzyme activity does not change with age in control subjects and tends to decrease in most SALS patients older than 60 years. A subpopulation of five SALS patients had significantly increased SOD1 activity; four of these patients over 70 years old. There was no correlation between enzyme activity and time of onset of the disease, or clinical forms of the illness. The variation in SOD1 activity in ageing SALS patients compared with younger patients suggests that they may undergo an oxidative disbalance contributing to the development of the disease.
肌萎缩侧索硬化症（ALS）是一种由大脑和脊髓中运动神经元退化引起的进行性疾病。散发性ALS（SALS）占大多数患者，而家族性形式（FALS）占所有病例的不到10%。自从在20%的FALS患者中发现存在铜/锌超氧化物歧化酶（SOD1）基因突变，并且FALS和SALS患者表现出相似的临床特征以来，人们推测两者可能共享一种共同的生理病理机制。我们研究了125名正常个体和40名SALS患者红细胞胞质提取物中的铜/锌SOD1活性。我们发现，在对照受试者中，酶活性不会随年龄变化，而在大多数60岁以上的SALS患者中往往会降低。五名SALS患者的亚群SOD1活性显著增加；其中四名患者年龄超过70岁。酶活性与疾病发病时间或疾病临床形式之间没有相关性。与年轻患者相比，老年SALS患者中SOD1活性的变化表明，他们可能经历了氧化失衡，这有助于疾病的发展。
