title: CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.
abstract: MicroRNAs (miRNAs) are short non-coding RNA molecules that regulate gene expression through post-transcriptional repression of target genes. They have been shown to be implicated in the pathophysiology of Alzheimer's disease (AD) and proposed as disease biomarkers. In the present work, we have studied the expression levels of 754 miRNAs in cerebrospinal fluid (CSF) from AD patients and control subjects. We have explored a first screening cohort (N = 20) and selected 12 miRNAs to be further tested in a second independent validation cohort (N = 69). We have found a significant upregulation of miR-222 and miR-125b in AD CSF. Of these, the association of miR-222 with AD is novel and reported here for the first time whereas upregulation of miR-125b has been previously reported in AD brain. Yet we do not find association with other miRNAs which were previously linked to AD. Our results shed light on potential underlying pathophysiological processes of AD and also point out the need for consensus procedures in CSF miRNA detection and data analysis.
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Adrià
authors.initials: A
authors.lastname: Dangla-Valls
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain. jlmoli@clinic.cat.|Barcelonabeta Brain Research Center, Pasqual Maragall Foundation, Wellington 30, 08005, Barcelona, Spain. jlmoli@clinic.cat.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Molinuevo
authors.affiliation: Laboratory of Metabolism, Department of Internal Medicine Specialties, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
authors.forename: Jordi
authors.initials: J
authors.lastname: Altirriba
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Sánchez-Valle
authors.affiliation: Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Alcolea
authors.affiliation: Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Fortea
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Lorena
authors.initials: L
authors.lastname: Rami
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Mircea
authors.initials: M
authors.lastname: Balasa
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Muñoz-García
authors.affiliation: Laboratory of Neurodegenerative Disorders, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
authors.affiliation: Laboratory of Neurodegenerative Disorders, Neurology Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
authors.forename: Rubén
authors.initials: R
authors.lastname: Fernández-Santiago
authors.affiliation: Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Lleó
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Albert
authors.initials: A
authors.lastname: Lladó
authors.affiliation: Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Antonell
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000235:genetics*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D001921:Brain / Q000378:metabolism; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000096:biosynthesis / Q000134:cerebrospinal fluid* / Q000235:genetics*; D008875:Middle Aged
chemical_list: D015415:Biomarkers; D035683:MicroRNAs; C531888:MIRN125 microRNA, human; C525710:MIR222, human
keywords: Alzheimer’s disease; Biomarkers; Cerebrospinal fluid; miR-125b; miR-222; microRNAs