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miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Lookup NU author(s): Professor Grainne Gorman



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2021 The AuthorsMyotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients’ care. Limited work, however, has been performed on rare diseases, including DM1. We have previously shown that specific microRNAs (miRNAs) can be used as potential biomarkers for DM1 progression. In this report, we aimed to identify novel serum-based biomarkers for DM1 through high-throughput next-generation sequencing. A number of miRNAs were identified that are able to distinguish DM1 patients from healthy individuals. Two miRNAs were selected, and their association with the disease was validated in a larger panel of patients. Further investigation of miR-223-3p, miR-24-3p, and the four previously identified miRNAs, miR-1-3p, miR-133a-3p, miR-133b-3p, and miR-206-3p, showed elevated levels in a DM1 mouse model for all six miRNAs circulating in the serum compared to healthy controls. Importantly, the levels of miR-223-3p, but not the other five miRNAs, were found to be significantly downregulated in five skeletal muscles and heart tissues of DM1 mice compared to controls. This result provides significant evidence for its involvement in disease manifestation.

Publication metadata

Author(s): Koutalianos D, Koutsoulidou A, Mytidou C, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Prokopi M, Kapnisis K, Nikolenko N, Turner C, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Gourdon G, Zamba Papanicolaou E, Gorman G, Anayiotos A, Lochmuller H, Phylactou LA

Publication type: Article

Publication status: Published

Journal: Molecular Therapy - Methods and Clinical Development

Year: 2021

Volume: 23

Pages: 169-183

Print publication date: 10/10/2021

Online publication date: 13/09/2021

Acceptance date: 07/09/2021

Date deposited: 28/01/2022

ISSN (electronic): 2329-0501

Publisher: Cell Press


DOI: 10.1016/j.omtm.2021.09.007


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Funder referenceFunder name
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 .
This work was also supported by A. G. Leventis Foundation .