title: MicroRNA hsa-miR-134 is a circulating biomarker for mesial temporal lobe epilepsy.
abstract: Epilepsy is misdiagnosed in up to 25% of patients, leading to serious and long-lasting consequences. Recently, circulating microRNAs have emerged as potential biomarkers in a number of clinical scenarios. The purpose of this study was to identify and to validate circulating microRNAs that could be used as biomarkers in the diagnosis of epilepsy. Quantitative real-time PCR was used to measure plasma levels of three candidate microRNAs in two phases of study: an initial discovery phase with 14 patients with mesial temporal lobe epilepsy (MTLE), 13 with focal cortical dysplasia (FCD) and 16 controls; and a validation cohort constituted of an independent cohort of 65 patients with MTLE and 83 controls. We found hsa-miR-134 downregulated in patients with MTLE (p = 0.018) but not in patients with FCD, when compared to controls. Furthermore, hsa-miR-134 expression could be used to discriminate MTLE patients with an area under the curve (AUC) of 0.75. To further assess the robustness of hsa-miR-134 as a biomarker for MTLE, we studied an independent cohort of 65 patients with MTLE, 27 of whom MTLE patients were responsive to pharmacotherapy, and 38 patients were pharmacoresistant and 83 controls. We confirmed that hsa-miR-134 was significantly downregulated in the plasma of patients with MTLE when compared with controls (p < 0.001). In addition, hsa-miR-134 identified patients with MTLE regardless of their response to pharmacotherapy or the presence of MRI signs of hippocampal sclerosis. We revealed that decreased expression of hsa-miR-134 could be a potential non-invasive biomarker to support the diagnosis of patients with MTLE.
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Simoni H
authors.initials: SH
authors.lastname: Avansini
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Beatriz Pereira
authors.initials: BP
authors.lastname: de Sousa Lima
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Marilza L
authors.initials: ML
authors.lastname: Santos
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Ana Carolina
authors.identifier: http://orcid.org/0000-0002-2888-929X
authors.initials: AC
authors.lastname: Coan
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: André S
authors.initials: AS
authors.lastname: Vieira
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Fábio R
authors.initials: FR
authors.lastname: Torres
authors.affiliation: Department of Statistics, Institute of Mathematics, Statistics and Scientific Computing, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Benilton S
authors.initials: BS
authors.lastname: Carvalho
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Marina K M
authors.identifier: http://orcid.org/0000-0002-6780-0761
authors.initials: MK
authors.lastname: Alvim
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Márcia E
authors.identifier: http://orcid.org/0000-0002-8531-3916
authors.initials: ME
authors.lastname: Morita
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Clarissa L
authors.initials: CL
authors.lastname: Yasuda
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Luciana R
authors.initials: LR
authors.lastname: Pimentel-Silva
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Danyella B
authors.initials: DB
authors.lastname: Dogini
authors.affiliation: Department of Anatomical Pathology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Fabio
authors.initials: F
authors.lastname: Rogerio
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Fernando
authors.identifier: http://orcid.org/0000-0001-9336-9568
authors.initials: F
authors.lastname: Cendes
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, São Paulo, Brazil.
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
mesh_terms: D015415:Biomarkers / Q000097:blood*; D015331:Cohort Studies; D004833:Epilepsy, Temporal Lobe / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000097:blood*; D048348:Reverse Transcription
chemical_list: D015415:Biomarkers; C569273:MIRN134 microRNA, human; D035683:MicroRNAs