Bradley W G, Krasin F
Arch Neurol. 1982 Nov;39(11):677-80. doi: 10.1001/archneur.1982.00510230003001.
Evidence is accumulating that a number of previously unexplained human diseases amy arise from a deficiency of DNA repair enzymes. Studies on the motoneurons of patients with amyotrophic lateral sclerosis (ALS), and those of an animal model of motoneuronal degeneration, the wobbler mouse, indicate the presence of major abnormalities of RNA metabolism. We advance the hypothesis that the primary abnormality in ALS is the accumulation of abnormal DNA, which is unable to undertake normal transcription, in motoneurons. This abnormal DNA may arise from a deficiency of an isozyme of one of the DNA repair enzymes.
越来越多的证据表明，一些以前无法解释的人类疾病可能源于DNA修复酶的缺乏。对肌萎缩侧索硬化症（ALS）患者的运动神经元以及运动神经元变性动物模型摇摆小鼠的运动神经元进行的研究表明，存在RNA代谢的重大异常。我们提出这样一个假说：ALS的主要异常是运动神经元中异常DNA的积累，这种异常DNA无法进行正常转录。这种异常DNA可能源于DNA修复酶之一的同工酶缺乏。
