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.

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. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 6(2016), pp. 38174.1-38174.9. [10.1038/srep38174]

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

A. Perfetti
Primo
;
S. Greco
Secondo
;
R. Cardani;B. Fossati;R. Valaperta;F. Ambrogi;A. Cortese;A. Botta;E. Costa;G. Meola
Penultimo
;
2016

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.
Multidisciplinary
Settore MED/26 - Neurologia
2016
Article (author)
File in questo prodotto:
File Dimensione Formato  
2016_Scientific Report.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.07 MB
Formato Adobe PDF
1.07 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/474094
Citazioni
  • ???jsp.display-item.citation.pmc??? 27
  • Scopus 43
  • ???jsp.display-item.citation.isi??? 41
social impact