视神经元在伴有或不伴有超氧化物歧化酶1（SOD1）突变的肌萎缩侧索硬化症中的差异参与情况。
Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.
作者信息
Deng Han-Xiang, Bigio Eileen H, Zhai Hong, Fecto Faisal, Ajroud Kaouther, Shi Yong, Yan Jianhua, Mishra Manjari, Ajroud-Driss Senda, Heller Scott, Sufit Robert, Siddique Nailah, Mugnaini Enrico, Siddique Teepu
机构信息
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
出版信息
Arch Neurol. 2011 Aug;68(8):1057-61. doi: 10.1001/archneurol.2011.178.
BACKGROUND
Mutations in optineurin have recently been linked to amyotrophic lateral sclerosis (ALS).
OBJECTIVE
To determine whether optineurin-positive skeinlike inclusions are a common pathologic feature in ALS, including SOD1 -linked ALS.
DESIGN
Clinical case series.
SETTING
Academic referral center.
SUBJECTS
We analyzed spinal cord sections from 46 clinically and pathologically diagnosed ALS cases and ALS transgenic mouse models overexpressing ALS-linked SOD1 mutations G93A or L126Z.
RESULTS
We observed optineurin-immunoreactive skeinlike inclusions in all the sporadic ALS and familial ALS cases without SOD1 mutation, but not in cases with SOD1 mutations or in transgenic mice overexpressing the ALS-linked SOD1 mutations G93A or L126Z.
CONCLUSION
The data from this study provide evidence that optineurin is involved in the pathogenesis of sporadic ALS and non- SOD1 familial ALS, thus supporting the hypothesis that these forms of ALS share a pathway that is distinct from that of SOD1-linked ALS.
背景
最近发现视紫质蛋白（optineurin）的突变与肌萎缩侧索硬化症（ALS）有关。
目的
确定视紫质蛋白阳性的丝状包涵体是否为ALS（包括与超氧化物歧化酶1（SOD1）相关的ALS）的常见病理特征。
设计
临床病例系列。
单位
学术转诊中心。
对象
我们分析了46例临床和病理诊断为ALS的病例以及过表达与ALS相关的SOD1突变G93A或L126Z的ALS转基因小鼠模型的脊髓切片。
结果
我们在所有无SOD1突变的散发性ALS和家族性ALS病例中观察到视紫质蛋白免疫反应性丝状包涵体，但在有SOD1突变的病例或过表达与ALS相关的SOD1突变G93A或L126Z的转基因小鼠中未观察到。
结论
本研究数据提供了证据，表明视紫质蛋白参与散发性ALS和非SOD1家族性ALS的发病机制，从而支持了这些形式的ALS共享一条与SOD1相关的ALS不同的途径这一假说。
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