title: Serum profiling identifies novel muscle miRNA and cardiomyopathy-related miRNA biomarkers in Golden Retriever muscular dystrophy dogs and Duchenne muscular dystrophy patients.
abstract: Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, we used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. We confirmed the dysregulation of the previously described muscle miRNAs, miR-1, miR-133, miR-206, and miR-378, and identified a new candidate muscle miRNA, miR-95. We identified two other classes of dysregulated serum miRNAs in muscular dystrophy: miRNAs belonging to the largest known miRNA cluster that resides in the imprinting DLK1-DIO3 genomic region and miRNAs associated with cardiac disease, including miR-208a, miR-208b, and miR-499. No simple correlation was identified between serum levels of cardiac miRNAs and cardiac functional parameters in golden retriever muscular dystrophy dogs. Finally, we confirmed a dysregulation of miR-95, miR-208a, miR-208b, miR-499, and miR-539 in a small cohort of DMD patients. Given the interspecies conservation of miRNAs and preliminary data in DMD patients, these newly identified dysregulated miRNAs are strong candidate biomarkers for DMD patients.
authors.affiliation: Genethon, Evry, France. Electronic address: jeanson@genethon.fr.
authors.forename: Laurence
authors.initials: L
authors.lastname: Jeanson-Leh
authors.affiliation: Genethon, Evry, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Lameth
authors.affiliation: Genethon, Evry, France.
authors.forename: Soraya
authors.initials: S
authors.lastname: Krimi
authors.affiliation: Genethon, Evry, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Buisset
authors.affiliation: Genethon, Evry, France.
authors.forename: Fatima
authors.initials: F
authors.lastname: Amor
authors.affiliation: Genethon, Evry, France; INSERM UMR 1089, Atlantic Gene Therapies, Nantes University, Nantes Hospital (Université de Nantes, CHU de Nantes), Nantes, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Le Guiner
authors.affiliation: Neurobiology Unit (UPR de Neurobiologie), East Paris University (Université Paris-Est), National Veterinary School of Alfort (Ecole Nationale Vétérinaire d'Alfort), Maisons-Alfort, France.
authors.forename: Inès
authors.initials: I
authors.lastname: Barthélémy
authors.affiliation: Department of Therapeutic Trials and Databases, Myology Institute (Institut de Myologie), Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Servais
authors.affiliation: Neurobiology Unit (UPR de Neurobiologie), East Paris University (Université Paris-Est), National Veterinary School of Alfort (Ecole Nationale Vétérinaire d'Alfort), Maisons-Alfort, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blot
authors.affiliation: INSERM, UMRS 974, Paris, France; Pierre and Marie Curie University (Université Pierre et Marie Curie) - Paris UM 76, CNRS, UMR 7215, Myology Institute (Institut de Myologie), Paris, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.affiliation: Genethon, Evry, France.
authors.forename: David
authors.initials: D
authors.lastname: Israeli
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D009202:Cardiomyopathies / Q000235:genetics / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D004285:Dogs; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D035683:MicroRNAs