TY  - JOUR
A1  - Perfetti, Alessandra
A1  - Greco, Simona
A1  - Bugiardini, Enrico
A1  - Cardani, Rosanna
A1  - Gaia, Paola
A1  - Gaetano, Carlo
A1  - Meola, Giovanni
A1  - Martelli, Fabio
T1  - Plasma microRNAs as biomarkers for myotonic dystrophy type 1
T2  - Neuromuscular disorders
N2  - 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.
KW  - microRNA
KW  - Myotonic dystrophy
KW  - Patients
KW  - Biomarker
KW  - Plasma
Y1  - 2014
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/36478
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-364782
SN  - 0960-8966
N1  - (c) 2014 The Authors. Published by Elsevier B.V. Open access under CC BY-NC-ND license.
VL  - 24
IS  - 6
SP  - 509
EP  - 515
PB  - Elsevier
CY  - Amsterdam [u.a.]
ER  -