Plasma microRNAs as biomarkers for myotonic dystrophy type 1

Alessandra Perfetti, Simona Greco, Enrico Bugiardini, Rosanna Cardani, Paola Gaia, Carlo Gaetano, Giovanni Meola, Fabio Martelli

Research output: Contribution to journalArticlepeer-review


Myotonic dystrophy type 1 (DM1) lacks non-invasive and easy to measure biomarkers, still largely relying on semi-quantitative tests for diagnostic and prognostic purposes. Muscle biopsies provide valuable data, but their use is limited by their invasiveness. microRNA (miRNAs) are small non-coding RNAs regulating gene expression that are also present in biological fluids and may serve as diseases biomarkers. Thus, we tested plasma miRNAs in the blood of 36 DM1 patients and 36 controls. First, a wide miRNA panel was profiled in a patient subset, followed by validation using all recruited subjects. We identified a signature of nine deregulated miRNAs in DM1 patients: eight miRNAs were increased (miR-133a, miR-193b, miR-191, miR-140-3p, miR-454, miR-574, miR-885-5p, miR-886-3p) and one (miR-27b) was decreased. Next, the levels of these miRNAs were used to calculate a "DM1-miRNAs score". We found that both miR-133a levels and DM1-miRNAs score discriminated DM1 from controls significantly and Receiver-Operator Characteristic curves displayed an area under the curve of 0.94 and 0.97, respectively. Interestingly, both miR-133a levels and DM1-miRNAs score displayed an inverse correlation with skeletal muscle strength and displayed higher values in more compromised patients.In conclusion, we identified a characteristic plasma miRNA signature of DM1. Although preliminary, this study indicates miRNAs as potential DM1 humoral biomarkers.

Original languageEnglish
Pages (from-to)509-515
Number of pages7
JournalNeuromuscular Disorders
Issue number6
Publication statusPublished - 2014


  • Biomarker
  • MicroRNA
  • Myotonic dystrophy
  • Patients
  • Plasma

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology
  • Medicine(all)


Dive into the research topics of 'Plasma microRNAs as biomarkers for myotonic dystrophy type 1'. Together they form a unique fingerprint.

Cite this