Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy.

Catapano F., Scaglioni D., Maresh K., Ala P., Domingos J., Selby V., Ricotti V., Phillips L., Servais L., Seferian A., Groot ID., Krom YD., Voit T., Verschuuren JJGM., Niks EH., Straub V., Morgan J., Muntoni F.

Aim: To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD. Subjects/materials & methods: Plasma was collected from 14 age and sex matched controls and 46 DMD subjects. Free-circulating and extracellular vesicle (EV)-derived miRNA expression was measured by RT-qPCR. Results: Free-circulating and EVs derived miR-29c-3p and miR-133a-3p are dysregulated in DMD subjects. Free-circulating and EV-derived miR-29c-3p are reduced in DMD subjects undergoing daily corticosteroid treatment. Free-circulating miR-1-3p and miR-122-5p are longitudinally upregulated in ambulant DMD subjects. Conclusion: We detected novel free-circulating and EV-derived dysregulated miRNAs in plasma from DMD subjects and characterized the longitudinal profile of free-circulating miRNA on plasma from DMD subjects.

DOI

10.2217/epi-2020-0052

Type

Journal article

Publication Date

2020-11-01T00:00:00+00:00

Volume

12

Pages

1899 - 1915

Total pages

16

Keywords

Duchenne muscular dystrophy, biomarkers, corticosteroids, extracellular vesicles, microRNAs, plasma, Adrenal Cortex Hormones, Biomarkers, Circulating MicroRNA, Extracellular Vesicles, Gene Expression Regulation, Humans, Liquid Biopsy, Longitudinal Studies, MicroRNAs, Muscular Dystrophy, Duchenne

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