Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations

被引：55

作者：

Deng, Han-Xiang ^{[1
]}

Bigio, Eileen H. ^{[2
,4
]}

Zhai, Hong ^{[1
]}

Fecto, Faisal ^{[1
,4
]}

Ajroud, Kaouther ^{[1
]}

Shi, Yong ^{[1
]}

Yan, Jianhua ^{[1
]}

Mishra, Manjari ^{[2
]}

Ajroud-Driss, Senda ^{[1
]}

Heller, Scott ^{[1
]}

Sufit, Robert ^{[1
]}

Siddique, Nailah

Mugnaini, Enrico ^{[3
,4
]}

Siddique, Teepu ^{[1
,3
,4
]}

机构：

[1] Northwestern Univ, Feinberg Sch Med, Davee Dept Neurol & Clin Neurosci, Div Neuromuscular Med, Chicago, IL 60611 USA

[2] Northwestern Univ, Feinberg Sch Med, Div Neuropathol, Dept Pathol, Chicago, IL 60611 USA

[3] Northwestern Univ, Feinberg Sch Med, Dept Cell & Mol Biol, Chicago, IL 60611 USA

[4] Northwestern Univ, Feinberg Sch Med, NW Univ Interdept Neurosci Program, Chicago, IL 60611 USA

来源：

ARCHIVES OF NEUROLOGY | 2011年 / 68卷 / 08期

基金：

美国国家卫生研究院;

关键词：

SUPEROXIDE-DISMUTASE; GENE-MUTATIONS; BUNINA BODIES; PROTEIN; IDENTIFICATION; HUNTINGTIN; DOMAINS; FORM; FUS;

D O I：

10.1001/archneurol.2011.178

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1057 / 1061

页数：5

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