Cargando…

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

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 identif...

Descripción completa

Detalles Bibliográficos
Autores principales: Perfetti, A., Greco, S., Cardani, R., Fossati, B., Cuomo, G., Valaperta, R., Ambrogi, F., Cortese, A., Botta, A., Mignarri, A., Santoro, M., Gaetano, C., Costa, E., Dotti, M. T., Silvestri, G., Massa, R., Meola, G., Martelli, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131283/
https://www.ncbi.nlm.nih.gov/pubmed/27905532
http://dx.doi.org/10.1038/srep38174
_version_ 1782470864044818432
author Perfetti, A.
Greco, S.
Cardani, R.
Fossati, B.
Cuomo, G.
Valaperta, R.
Ambrogi, F.
Cortese, A.
Botta, A.
Mignarri, A.
Santoro, M.
Gaetano, C.
Costa, E.
Dotti, M. T.
Silvestri, G.
Massa, R.
Meola, G.
Martelli, F.
author_facet Perfetti, A.
Greco, S.
Cardani, R.
Fossati, B.
Cuomo, G.
Valaperta, R.
Ambrogi, F.
Cortese, A.
Botta, A.
Mignarri, A.
Santoro, M.
Gaetano, C.
Costa, E.
Dotti, M. T.
Silvestri, G.
Massa, R.
Meola, G.
Martelli, F.
author_sort Perfetti, A.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5131283
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-51312832016-12-15 Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 Perfetti, A. Greco, S. Cardani, R. Fossati, B. Cuomo, G. Valaperta, R. Ambrogi, F. Cortese, A. Botta, A. Mignarri, A. Santoro, M. Gaetano, C. Costa, E. Dotti, M. T. Silvestri, G. Massa, R. Meola, G. Martelli, F. Sci Rep Article 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. Nature Publishing Group 2016-12-01 /pmc/articles/PMC5131283/ /pubmed/27905532 http://dx.doi.org/10.1038/srep38174 Text en Copyright © 2016, The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Perfetti, A.
Greco, S.
Cardani, R.
Fossati, B.
Cuomo, G.
Valaperta, R.
Ambrogi, F.
Cortese, A.
Botta, A.
Mignarri, A.
Santoro, M.
Gaetano, C.
Costa, E.
Dotti, M. T.
Silvestri, G.
Massa, R.
Meola, G.
Martelli, F.
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title_full Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title_fullStr Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title_full_unstemmed Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title_short Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1
title_sort validation of plasma micrornas as biomarkers for myotonic dystrophy type 1
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131283/
https://www.ncbi.nlm.nih.gov/pubmed/27905532
http://dx.doi.org/10.1038/srep38174
work_keys_str_mv AT perfettia validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT grecos validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT cardanir validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT fossatib validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT cuomog validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT valapertar validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT ambrogif validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT cortesea validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT bottaa validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT mignarria validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT santorom validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT gaetanoc validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT costae validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT dottimt validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT silvestrig validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT massar validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT meolag validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1
AT martellif validationofplasmamicrornasasbiomarkersformyotonicdystrophytype1