The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database

Marogianni C., Rikos D., Provatas A., Dadouli K., Ntellas P., Tsitsi P., Patrinos G., Dardiotis E., Hadjigeorgiou G., Xiromerisiou G.

Συγγραφέας

Marogianni C., Rikos D., Provatas A., Dadouli K., Ntellas P., Tsitsi P., Patrinos G., Dardiotis E., Hadjigeorgiou G., Xiromerisiou G.

Ημερομηνία

2019

Γλώσσα

DOI

10.1016/j.neurobiolaging.2019.04.012

Εμφάνιση Μεταδεδομένων

Επιτομή

A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) cases predominantly in Caucasian populations. In the last decade, scientific interest had been drawn to this gene and many studies conducted have shown a possible correlation with other neurodegenerative diseases as well. We performed an extensive literature search for C9orf72 mutation and its frequency in various neurological and psychiatric diseases. In addition, we performed a meta-analysis of the data related to ALS and familial ALS. An online cloud-based database and an interactive map were developed. The overall mutation frequency of C9orf72 is 20% for familial FTD, 16% for familial ALS and around 6%–8% for sporadic ALS and FTD. The updated meta-analysis that we performed showed that the pooled frequency of C9orf72 repeat expansion in patients with familial ALS was 23% (CI: 18%–28%) and in patients with sporadic ALS 3% (CI: 3%–4%). The subgroup analysis regarding the origin of the population revealed significant differences between Caucasian and Asian patients. Our analysis supports the direct causal relation of the C9orf72 expansion in ALS and FTD. On the contrary, the role of C9orf72 in other neurodegenerative disorders remains controversial. The system that we developed—the online database and the interactive map—is hopefully a stepping stone for an ever-growing platform that will aid scientists from all over the world in contributing to the meta-analysis of C9orf72-related publications. © 2019 Elsevier Inc.

URI

http://hdl.handle.net/11615/76390

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Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [19743]

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Background National levels of personal health-care access and quality can be approximated by measuring mortality rates from causes that should not be fatal in the presence of effective medical care (ie, amenable mortality). ...
SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19

Tsatsakis A., Calina D., Falzone L., Petrakis D., Mitrut R., Siokas V., Pennisi M., Lanza G., Libra M., Doukas S.G., Doukas P.G., Kavali L., Bukhari A., Gadiparthi C., Vageli D.P., Kofteridis D.P., Spandidos D.A., Paoliello M.M.B., Aschner M., Docea A.O. (2020)

Common manifestations of COVID-19 are respiratory and can extend from mild symptoms to severe acute respiratory distress. The severity of the illness can also extend from mild disease to life-threatening acute respiratory ...