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Lookup NU author(s): Professor Grainne Gorman, Professor Hanns Lochmuller
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. miRNAs are small RNA molecules characterized by high stability in blood thus making them ideal biomarker candidates for various diseases. In this study, we present the first genome-wide next-generation small RNA sequencing in serum samples of five different types of muscular dystrophy patients and healthy individuals. We identified many small RNAs including miRNAs, lncRNAs, tRNAs, snoRNAs and snRNAs, that differentially discriminate the muscular dystrophy patients from the healthy individuals. Further analysis of the identified miRNAs showed that some miRNAs can distinguish the muscular dystrophy patients from controls and other miRNAs are specific to the type of muscular dystrophy. Bioinformatics analysis of the target genes for the most significant miRNAs and the biological role of these genes revealed different pathways that the dysregulated miRNAs are involved in each type of muscular dystrophy investigated. In conclusion, this study shows unique signatures of small RNAs circulating in five types of muscular dystrophy patients and provides a useful resource for future studies for the development of miRNA biomarkers in muscular dystrophies and for their involvement in the pathogenesis of the disorders.
Author(s): Kakouri AC, Koutalianos D, Koutsoulidou A, Oulas A, Tomazou M, Nikolenko N, Turner C, Roos A, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Papanicolaou EZ, Gorman G, Lochmuller H, Spyrou GM, Phylactou LA
Publication type: Article
Publication status: Published
Journal: RNA Biology
Year: 2022
Volume: 19
Issue: 1
Pages: 507-518
Online publication date: 07/04/2022
Acceptance date: 23/03/2022
Date deposited: 19/04/2022
ISSN (print): 1547-6286
ISSN (electronic): 1555-8584
Publisher: Taylor & Francis
URL: https://doi.org/10.1080/15476286.2022.2058817
DOI: 10.1080/15476286.2022.2058817
PubMed id: 35388741
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