Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

被引：46

作者：

Deng, Zhiqiang ^{[1
,2
,3
]}

Sheehan, Patricia ^{[3
]}

Chen, Shi ^{[1
,2
]}

Yue, Zhenyu ^{[3
]}

机构：

[1] Wuhan Univ, Zhongnan Hosp, Brain Ctr, Wuhan 430071, Hubei, Peoples R China

[2] Hubei Univ Med, Taihe Hosp, Shiyan 442000, Hubei, Peoples R China

[3] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurol, New York, NY 10029 USA

来源：

MOLECULAR NEURODEGENERATION | 2017年 / 12卷

关键词：

Amyotrophic lateral sclerosis; Frontotemporal dementia; Autophagy; Disease-associated genes; Autophagy-related genes; FRONTOTEMPORAL LOBAR DEGENERATION; PROTEIN-DEGRADATION PATHWAYS; MOTOR-NEURON DISEASE; STRESS GRANULES; SELECTIVE AUTOPHAGY; TRANSGENIC MICE; CLINICOPATHOLOGICAL FEATURES; RECEPTOR OPTINEURIN; REGULATE AUTOPHAGY; BINDING PROTEIN;

D O I：

10.1186/s13024-017-0232-6

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative disorders that share genetic risk factors and pathological hallmarks. Intriguingly, these shared factors result in a high rate of comorbidity of these diseases in patients. Intracellular protein aggregates are a common pathological hallmark of both diseases. Emerging evidence suggests that impaired RNA processing and disrupted protein homeostasis are two major pathogenic pathways for these diseases. Indeed, recent evidence from genetic and cellular studies of the etiology and pathogenesis of ALS-FTD has suggested that defects in autophagy may underlie various aspects of these diseases. In this review, we discuss the link between genetic mutations, autophagy dysfunction, and the pathogenesis of ALS-FTD. Although dysfunction in a variety of cellular pathways can lead to these diseases, we provide evidence that ALS-FTD is, in many cases, an autophagy disease.

引用

页数：11

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