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Circulating microRNAs as potential biomarkers for genetic generalized epilepsies: a three microRNA panel

2019-12-15Journal article Restricted access
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dc.contributor.authorMartins‐Ferreira, R.
dc.contributor.authorChaves, J.
dc.contributor.authorCarvalho, C.
dc.contributor.authorBettencourt, A.
dc.contributor.authorChorão, R.
dc.contributor.authorFreitas, J.
dc.contributor.authorSamões, R.
dc.contributor.authorBoleixa, D.
dc.contributor.authorLopes, J.
dc.contributor.authorRamalheira, J.
dc.contributor.authorSilva, B.M.
dc.contributor.authorMartins da Silva, A.
dc.contributor.authorCosta, P. P.
dc.contributor.authorLeal, B.
dc.date.accessioned2020-05-10T08:28:48Z
dc.date.available2020-05-10T08:28:48Z
dc.date.issued2019-12-15
dc.description.abstractBackground and purpose: Genetic generalized epilepsies (GGEs) encompass a group of syndromes of mainly genetic causes, characterized by the involvement of both hemispheres. MicroRNAs (miRNAs) are small non-coding RNAs with a critical role in the regulation of neuronal biological processes through gene expression modulation. Dysregulated miRNA expression has been shown in epilepsy. Due to their stability in biological fluids like serum, miRNAs have assumed a prominent role in biomarker research. Our aim was to evaluate circulating levels of three miRNAs in GGE patients and assess their putative diagnostic value. Methods: MiR-146a, miR-155 and miR-132 were quantified by real-time polymerase chain reaction in the serum of 79 GGE patients (47 women, 32 men, 35.1 ± 12.4 years) and 67 healthy individuals (41 women, 26 men, 42.4 ± 10.1 years). Relative expression values were calculated using the 2-ΔΔCt method. Receiver operating characteristic curve analysis was performed to assess diagnostic value. MiRNA expression was correlated with clinicopathological features. Results: Serum levels of miR-146a and miR-155 were significantly upregulated in GGE patients relative to controls (3.13 and 6.05, respectively). Combined miR-146a, miR-155 and miR-132 serum levels performed well as a diagnostic biomarker, discriminating GGE patients from controls with an area under the curve of 0.85, 80% specificity and 73% sensitivity. Conclusions: Our results indicate that miR-146a, miR-155 and miR-132 may partake in GGE epileptogenesis. A panel of three circulating miRNAs with potential value as a GGE biomarker is reported for the first time. Novel biomarkers may help to identify new treatment targets and contribute to improved patients' quality of life through earlier diagnosis and a more precise prognosis.pt_PT
dc.description.sponsorshipThis research was partially funded by a BICE Tecnifar Grant.
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Neurol. 2020 Apr;27(4):660-666. doi: 10.1111/ene.14129. Epub 2019 Dec 15pt_PT
dc.identifier.doi10.1111/ene.14129pt_PT
dc.identifier.issn1351-5101
dc.identifier.urihttp://hdl.handle.net/10400.18/6643
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley/ European Federation of Neurological Societiespt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/abs/10.1111/ene.14129pt_PT
dc.subjectBiomarkerpt_PT
dc.subjectDiagnosticpt_PT
dc.subjectEpigeneticspt_PT
dc.subjectEpilepsypt_PT
dc.subjectmicroRNAspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCirculating microRNAs as potential biomarkers for genetic generalized epilepsies: a three microRNA panelpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage666pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage660pt_PT
oaire.citation.titleEuropean Journal of Neurologypt_PT
oaire.citation.volume27pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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