title: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.
abstract: Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Perfetti
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Greco
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cardani
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Fossati
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cuomo
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Valaperta
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Ambrogi
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cortese
authors.affiliation: Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Botta
authors.affiliation: Institute of Neurology, Tor Vergata University, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Mignarri
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Santoro
authors.affiliation: Goethe University, Frankfurt am Main, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Gaetano
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Costa
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.affiliation: Institute of Neurology, Catholic University- L.go F, Vito- Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.affiliation: Institute of Neurology, Tor Vergata University, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Massa
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.|Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Martelli
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000097:blood*; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000097:blood*; D012737:Sex Factors
chemical_list: D015415:Biomarkers; D035683:MicroRNAs