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

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.

SUBMITTER: Xu X

PROVIDER: S-EPMC7757155 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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

Xu Xingfeng X Su Yan Y Zou Zhenyou Z Zhou Yali Y Yan Jianguo J

International journal of medical sciences 20210101 2

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 ...[more]

PMID: 33390807

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Project description:Objectives: To carry out an integrated and stratified meta-analysis on occupational exposure to electromagnetic fields (EMFs), metals and pesticides and its effects on amyotrophic lateral sclerosis (ALS) and Parkinson's and Alzheimer's disease, and investigate the possibility of publication bias. Methods: In the current study, we updated our recently published meta-analyses on occupational exposures in relation to ALS, Alzheimer's and Parkinson's disease. Based on 66 original publications of good scientific epidemiological standard, according to the Meta-analysis of Observational Studies in Epidemiology (MOOSE) and the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) guidelines, we analysed subgroups by carrying out stratified meta-analyses on publication year, statistical precision of the relative risk (RR) estimates, inspection of the funnel plots and test of bias. Results: Based on 19 studies the weighted RR for occupational exposure to EMFs was 1.26 (95% confidence interval (CI) 1.07?1.50) for ALS, 1.33 (95% CI 1.07?1.64) for Alzheimer's disease and 1.02 (95% CI 0.83?1.26) for Parkinson's disease. Thirty-one studies concerned occupational exposure to pesticides and the weighted RR was 1.35 (95% CI 1.02?1.79) for ALS, 1.50 (95% CI 0.98?2.29) for Alzheimer's disease and 1.66 (95% CI 1.42?1.94) for Parkinson's disease. Finally, 14 studies concerned occupational exposure to metals and only exposure to lead (five studies) involved an elevated risk for ALS or Parkinson's disease and the weighted RR was 1.57 (95% CI 1.11?2.20). The weighted RR for all the non-lead exposures was 0.97 (95% CI 0.88?1.06). Conclusions: Exposure to pesticides increased the risk of getting the mentioned neurodegenerative diseases by at least 50%. Exposure to lead was only studied for ALS and Parkinson's disease and involved 50% increased risk. Occupational exposure to EMFs seemed to involve some 10% increase in risk for ALS and Alzheimer's disease only.

Project description:Background: Neurodegenerative diseases are a group of progressive disorders that affect the central nervous system (CNS) such as Alzheimer, Parkinson, and multiple sclerosis. Inflammation plays a critical role in the onset and progression of these injuries. Periodontitis is considered an inflammatory disease caused by oral biofilms around the tooth-supporting tissues, leading to a systemic and chronic inflammatory condition. Thus, this systematic review aimed to search for evidence in the association between neurodegenerative disorders and periodontitis. Methods: This systematic review was registered at International Prospective Register of Systematic Reviews (PROSPERO) under the code CRD 42016038327. The search strategy was performed in three electronic databases and one gray literature source-PubMed, Scopus, Web of Science, and OpenGrey, based on the PECO acronym: observational studies in humans (P) in which a neurodegenerative disease was present (E) or absent (C) to observe an association with periodontitis (O). The Fowkes and Fulton checklist was used to critically appraise the methodological quality and the risk of bias of individual studies. The quality of evidence was assessed by the Grading of Recommendations Assessment, Development and Evaluation (GRADE). Results: From 534 articles found, 12 were included, of which eight were case-control, three were cross-sectional, and one was a cohort, giving a total of 3,460 participants. All the included studies reported an association between some neurodegenerative diseases and periodontitis and presented a low risk of bias. According to the GRADE approach, the level of evidence of probing pocket depth was considered very low due to the significant heterogeneity across the studies' upgrading imprecision and inconsistency. Conclusions: Although all the included studies in this review reported an association between neurodegenerative diseases and periodontitis, the level of evidence was classified to be very low, which suggests a cautious interpretation of the results.

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

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

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