Plasma microRNAs as biomarkers for myotonic dystrophy type 1
- 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.
Author: | Alessandra Perfetti, Simona Greco, Enrico Bugiardini, Rosanna Cardani, Paola Gaia, Carlo Gaetano, Giovanni Meola, Fabio Martelli |
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URN: | urn:nbn:de:hebis:30:3-364782 |
DOI: | https://doi.org/10.1016/j.nmd.2014.02.005 |
ISSN: | 0960-8966 |
Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/24679513 |
Parent Title (English): | Neuromuscular disorders |
Publisher: | Elsevier |
Place of publication: | Amsterdam [u.a.] |
Document Type: | Article |
Language: | English |
Date of Publication (online): | 2015/01/14 |
Date of first Publication: | 2014/02/18 |
Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
Release Date: | 2015/01/14 |
Tag: | Biomarker; Myotonic dystrophy; Patients; Plasma; microRNA |
Volume: | 24 |
Issue: | 6 |
Page Number: | 7 |
First Page: | 509 |
Last Page: | 515 |
Note: | (c) 2014 The Authors. Published by Elsevier B.V. Open access under CC BY-NC-ND license. |
HeBIS-PPN: | 367500698 |
Institutes: | Medizin / Medizin |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Sammlungen: | Universitätspublikationen |
Licence (German): | Creative Commons - Namensnennung-Nicht kommerziell-Keine Bearbeitung 3.0 |