期刊
NATURE REVIEWS NEUROLOGY
卷 10, 期 6, 页码 337-348出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrneurol.2014.78
关键词
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资金
- National Natural Science Foundation of China [81271921, 81101339]
- Sheng Hua Scholars Program of Central South University
- Fundamental Research Funds for the Central Universities [2011JQ014]
- Research Fund for the Doctoral Program of Higher Education of China [20110162110, 026]
- Construction Fund for Key Subjects of the Third Xiangya Hospital, Central South University [2012zzts120]
- Fundamental Research Funds for the Central Universities of Central South University
- National Parkinson Foundation
The neurodegenerative diseases are a diverse group of disorders characterized by progressive loss of specific groups of neurons. These diseases affect different populations, and have a variable age of onset, clinical symptoms, and pathological findings. Variants in the FUS gene, which encodes an RNA-binding protein, have been identified as causative or risk factors for amyotrophic lateral sclerosis (ALS), essential tremor and rare forms of frontotemporal lobar degeneration (FTLD). Additionally, abnormal aggregation of FUS protein has been reported in multiple neurodegenerative diseases, including ALS, FTLD and the polyglutamine diseases, suggesting a role for FUS in the pathogenesis of these neurodegenerative diseases. This Review summarizes current understanding of the normal function of FUS, and describes its role in the pathology of ALS, FTLD, essential tremor and other neurodegenerative diseases. Comments on the underlying pathogenetic mechanisms of these FUS-related disorders are included. Finally, the clinical implications of recent advances in FUS research are discussed. Further understanding of the role of FUS in neurodegenerative diseases might lead to improvements in the treatment and prevention of these disorders.
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