Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

Kakouri, Andrea C.; Koutalianos, Demetris; Koutsoulidou, Andrie; Oulas, Anastasis; Tomazou, Marios; Nikolenko, Nikoletta; Turner, Chris; Roos, Andreas; Lusakowska, Anna; Janiszewska, Katarzyna; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Papanicolaou, Eleni Zamba; Gorman, Grainne S.; Lochmüller, Hanns; Spyrou, George M.; Phylactou, Leonidas A.

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

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dc.contributor.author Kakouri, Andrea C.
dc.contributor.author Koutalianos, Demetris
dc.contributor.author Koutsoulidou, Andrie
dc.contributor.author Oulas, Anastasis
dc.contributor.author Tomazou, Marios
dc.contributor.author Nikolenko, Nikoletta
dc.contributor.author Turner, Chris
dc.contributor.author Roos, Andreas
dc.contributor.author Lusakowska, Anna
dc.contributor.author Janiszewska, Katarzyna
dc.contributor.author Papadimas, George K.
dc.contributor.author Papadopoulos, Constantinos
dc.contributor.author Kararizou, Evangelia
dc.contributor.author Papanicolaou, Eleni Zamba
dc.contributor.author Gorman, Grainne S.
dc.contributor.author Lochmüller, Hanns
dc.contributor.author Spyrou, George M.
dc.contributor.author Phylactou, Leonidas A.
dc.date.accessioned 2022-05-31T10:00:28Z
dc.date.available 2022-05-31T10:00:28Z
dc.date.issued 2022
dc.description.abstract 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.
dc.description.sponsorship This Project (the european regional development fund and the republic of Cyprus through the research and innovation foundation POST-DOC/0916/0235) was co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation. A.C.K, A.O., M.T. and G.M.S. were funded by the European Commission Research Executive Agency Grant BIORISE [number the spreading excellence, widening participation, science with and for society framework 669026], under the Spreading Excellence, Widening Participation, Science with and for Society Framework. HL receives support from the Canadian Institutes of Health Research (Foundation Grant the canadian institutes of health research FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (the Canada foundation for innovation CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, the Canada research chairs program 950-232279)
dc.format.mimetype application/pdf
dc.identifier.citation Kakouri AC, Koutalianos D, Koutsoulidou A, Oulas A, Tomazou M, Nikolenko N et al. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. RNA Biol. 2022;19(1):507-518. DOI:10.1080/15476286.2022.2058817
dc.identifier.doi http://dx.doi.org/10.1080/15476286.2022.2058817
dc.identifier.issn 1547-6286
dc.identifier.uri http://hdl.handle.net/10230/53331
dc.language.iso eng
dc.publisher Taylor and Francis
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/669026
dc.rights © 2022 Andrea C. Kakouri et al. Published by Informa UK Limited, trading as Taylor & Francis Group. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Genètica
dc.subject.other Distròfia muscular
dc.title Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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