Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum
Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum
复制标题
缺乏脱氧核糖核酸修复导致着色性干皮病神经元死亡的证据
DOI：
10.1002/ana.410130621
复制
发表时间：
1983
影响因子：
11.2
通讯作者：
A. Moshell
中科院分区：
文献类型：
--
作者：
J. Robbins;R. Polinsky;A. Moshell
着色性干皮病（XP）是一种常染色体隐性遗传疾病，对紫外线辐射的致死效应过敏，由遗传缺陷引起的脱氧核糖核酸（DNA）修复过程。一些XP患者发生原发性神经元变性，这被认为是神经元DNA未修复的损伤所致。五年前，我们报道了一名12岁的XP女孩的培养皮肤成纤维细胞，她当时只有一个主要的神经系统异常，对紫外线辐射的敏感性介于有许多神经系统异常的XP患者和没有神经系统异常的XP患者之间。最近的神经学研究表明，她有一个缓慢但进行性发展的感觉神经性耳聋，以及小脑和运动功能障碍的典型XP。这些结果支持了DNA修复缺陷与神经元过早死亡相关的假设。
Xeroderma pigmentosum (XP) is an autosomal recessive disorder with hypersensitivity to the lethal effects of ultraviolet radiation caused by inherited defects in deoxyribonucleic acid (DNA) repair processes. Some patients with XP develop a primary neuronal degeneration which has been thought to result from unrepaired damage in neuronal DNA. Five years ago we reported that cultured skin fibroblasts from a 12‐yearold girl with XP, who then had only one major neurological abnormality of the disease, had a sensitivity to ultraviolet radiation intermediate between that of XP patients with numerous neurological abnormalities and those with none. Recent neurological studies reveal that she has a slowly but progressively developing sensorineural deafness as well as cerebellar and motor dysfunction typical of XP. The results support the postulate that defective DNA repair is associated with premature neuron death.