Int J Med Sci 2021; 18(2):378-386. doi:10.7150/ijms.53550

Review

Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature

Xingfeng Xu1,2, Yan Su1,2, Zhenyou Zou2, Yali Zhou1✉, Jianguo Yan1,2✉

1. Faculty of Basic Medical Sciences, Guilin Medical University, Guilin, 541004, Guangxi, China.
2. Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin Medical University, Guilin, 541004, Guangxi, China.

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Citation:
Xu X, Su Y, Zou Z, Zhou Y, Yan J. Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature. Int J Med Sci 2021; 18(2):378-386. doi:10.7150/ijms.53550. Available from https://www.medsci.org/v18p0378.htm

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Abstract

Chromosome 9 open reading frame 72 (C9ORF72) encodes a 54-kDa protein with unknown function that is expressed at high levels in the central nervous system. The C9ORF72 hexanucleotide amplification is one of the most recently discovered repetitive amplification diseases related to neurodegeneration. Its association with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) spectrum diseases has been fully established, although a causative role for C9ORF72 in Alzheimer's disease (AD) and Parkinson's disease (PD) remains to be established. Therefore, in this article, we will review the evidence for C9ORF72 as a causative factor in neurodegenerative diseases, the underlying mechanisms, and the potential for targeting C9ORF72 as a strategy to alleviate neurodegenerative disease progression.

Keywords: C9ORF72, Neurodegenerative diseases, Amyotrophic lateral sclerosis, Frontotemporal dementia, Alzheimer's disease, Parkinson's disease