Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

A. Perfetti, S. Greco, R. Cardani, B. Fossati, G. Cuomo, R. Valaperta, F. Ambrogi, A. Cortese, A. Botta, A. Mignarri, M. Santoro, C. Gaetano, E. Costa, M. T. Dotti, G. Silvestri, R. Massa, G. Meola, F. Martelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number38174
JournalScientific Reports
Publication statusPublished - Dec 1 2016

ASJC Scopus subject areas

  • General


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