title: Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.
abstract: Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in DM1 samples. The differences detected between patients and controls were less than 2.6 fold for all of them and a selection of six candidate miRNAs, miR-103, miR-107, miR-21, miR-29a, miR-30c, and miR-652 all failed to show consistent differences in serum expression in subsequent validation experiments.
authors.affiliation: Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain.|Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Valencia, Spain.|Valentia BioPharma, Scientific Park of the University of Valencia, Valencia, Spain.
authors.forename: Juan M
authors.initials: JM
authors.lastname: Fernandez-Costa
authors.affiliation: Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain.|Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Valencia, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Llamusi
authors.affiliation: Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain.|Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Valencia, Spain.
authors.forename: Ariadna
authors.initials: A
authors.lastname: Bargiela
authors.affiliation: Neuroscience Area, Biodonostia Institute, Donostia-San Sebastian, Spain.
authors.forename: Miren
authors.initials: M
authors.lastname: Zulaica
authors.affiliation: Valentia BioPharma, Scientific Park of the University of Valencia, Valencia, Spain.
authors.forename: M Carmen
authors.initials: MC
authors.lastname: Alvarez-Abril
authors.affiliation: Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain.|Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Valencia, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Perez-Alonso
authors.affiliation: Neuroscience Area, Biodonostia Institute, Donostia-San Sebastian, Spain.|Donostia University Hospital, Donostia-San Sebastian, Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Lopez de Munain
authors.affiliation: Valentia BioPharma, Scientific Park of the University of Valencia, Valencia, Spain.
authors.forename: Arturo
authors.initials: A
authors.lastname: Lopez-Castel
authors.affiliation: Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain.|Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED), Universitat de València, Valencia, Spain.
authors.forename: Ruben
authors.initials: R
authors.lastname: Artero
mesh_terms: D000328:Adult; D015415:Biomarkers; D015139:Blotting, Southern; D020869:Gene Expression Profiling; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000097:blood*; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000097:blood* / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: D015415:Biomarkers; C544749:MIRN103 microRNA, human; C549045:MIRN107 microRNA, human; C524940:MIRN21 microRNA, human; C532045:MIRN29a microRNA, human; C546086:MIRN30b microRNA, human; C574011:MIRN652 microRNA, human; D035683:MicroRNAs