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

Koutalianos, D; Koutsoulidou, A; Mytidou, C; Kakouri, AC; Oulas, A; Tomazou, M; Kyriakides, TC; ... Phylactou, LA; + view all (2021) miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1. Molecular Therapy: Methods & Clinical Development , 23 pp. 169-183. 10.1016/j.omtm.2021.09.007. Green open access

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Abstract

Myotonic 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.

Type: Article
Title: miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.omtm.2021.09.007
Publisher version: https://doi.org/10.1016/j.omtm.2021.09.007
Language: English
Keywords: DMSXL mice, RNA-seq, biomarkers, heart, miRNAs, muscle, myomiRs, myotonic dystrophy, serum, small extracellular vesicles
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10172241
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