Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Koutsoulidou, Andrie; Koutalianos, Demetris; Georgiou, Kristia; Kakouri, Andrea C.; Oulas, Anastasis; Tomazou, Marios; Kyriakides, Tassos C.; Roos, Andreas; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Spyrou, George M.; Papanicolaou, Eleni Zamba; Lochmüller, Hanns; Phylactou, Leonidas A.

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

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dc.contributor.author Koutsoulidou, Andrie
dc.contributor.author Koutalianos, Demetris
dc.contributor.author Georgiou, Kristia
dc.contributor.author Kakouri, Andrea C.
dc.contributor.author Oulas, Anastasis
dc.contributor.author Tomazou, Marios
dc.contributor.author Kyriakides, Tassos C.
dc.contributor.author Roos, Andreas
dc.contributor.author Papadimas, George K.
dc.contributor.author Papadopoulos, Constantinos
dc.contributor.author Kararizou, Evangelia
dc.contributor.author Spyrou, George M.
dc.contributor.author Papanicolaou, Eleni Zamba
dc.contributor.author Lochmüller, Hanns
dc.contributor.author Phylactou, Leonidas A.
dc.date.accessioned 2022-05-31T09:59:54Z
dc.date.available 2022-05-31T09:59:54Z
dc.date.issued 2022
dc.description.abstract Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers' development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Here, we aimed to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing. We identified many miRNAs that associate with muscular dystrophy patients compared to controls. Based on a series of selection criteria, the two best candidate miRNAs for each of these disorders were chosen and validated in a larger number of patients. Our results showed that miR-223-3p and miR-206 are promising serum-based biomarkers for Facioscapulohumeral Muscular Dystrophy type 1, miR-143-3p and miR-486-3p for Limb-Girdle Muscular Dystrophy type 2A whereas miR-363-3p and miR-25-3p associate with Myotonic Dystrophy type 2. Some of the identified miRNAs were significantly elevated in the serum of the patients compared to controls, whereas some others were lower. In conclusion, we provide new evidence that certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies.
dc.description.sponsorship This Project (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 669026], under the Spreading Excellence, Widening Participation, Science with and for Society Framework. H.L. receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279)
dc.format.mimetype application/pdf
dc.identifier.citation Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M et al. Serum miRNAs as biomarkers for the rare types of muscular dystrophy. Neuromuscul Disord. 2022 Apr;32(4):332-346. DOI:10.1016/j.nmd.2022.03.003
dc.identifier.doi http://dx.doi.org/10.1016/j.nmd.2022.03.003
dc.identifier.issn 0960-8966
dc.identifier.uri http://hdl.handle.net/10230/53328
dc.language.iso eng
dc.publisher Elsevier
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/669026
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.other Distròfia muscular
dc.subject.other Genètica
dc.subject.other Sèrum
dc.title Serum miRNAs as biomarkers for the rare types of muscular dystrophy
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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