title: miRNAs as serum biomarkers for Duchenne muscular dystrophy.
abstract: Dystrophin absence in Duchenne muscular dystrophy (DMD) causes severe muscle degeneration. We describe that, as consequence of fibre damage, specific muscle-miRNAs are released in to the bloodstream of DMD patients and their levels correlate with the severity of the disease. The same miRNAs are abundant also in the blood of mdx mice and recover to wild-type levels in animals 'cured' through exon skipping. Even though creatine kinase (CK) blood levels have been utilized as diagnostic markers of several neuromuscular diseases, including DMD, we demonstrate that they correlate less well with the disease severity. Although the analysis of a larger number of patients should allow to obtain more refined correlations with the different stages of disease progression, we propose that miR-1, miR-133, and miR-206 are new and valuable biomarkers for the diagnosis of DMD and possibly also for monitoring the outcomes of therapeutic interventions in humans. Despite many different DMD therapeutic approaches are now entering clinical trials, a unifying method for assessing the benefit of different treatments is still lacking.
authors.affiliation: Department of Biology and Biotechnology, Institute Pasteur Cenci-Bolognetti and IBPM, Sapienza University of Rome, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Cacchiarelli
authors.forename: Ivano
authors.initials: I
authors.lastname: Legnini
authors.forename: Julie
authors.initials: J
authors.lastname: Martone
authors.forename: Valentina
authors.initials: V
authors.lastname: Cazzella
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Irene
authors.initials: I
authors.lastname: Bozzoni
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000097:blood*; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D051379:Mice; D035683:MicroRNAs / Q000097:blood*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000473:pathology*; D044967:Serum / Q000737:chemistry; D012720:Severity of Illness Index
chemical_list: D015415:Biomarkers; C544547:MIRN1 microRNA, human; C548234:MIRN133 microRNA, human; C546087:MIRN206 microRNA, human; D035683:MicroRNAs; D003402:Creatine Kinase