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.
© 2020 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.