• Int J Med Sci · Jan 2021

    Review

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

    • Xingfeng Xu, Yan Su, Zhenyou Zou, Yali Zhou, and Jianguo Yan.
    • Faculty of Basic Medical Sciences, Guilin Medical University, Guilin, 541004, Guangxi, China.
    • Int J Med Sci. 2021 Jan 1; 18 (2): 378-386.

    AbstractChromosome 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.© The author(s).

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