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.; ... ; Muntoni, F. (2020)

Article / Letter to editor

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.

• biomarkers
• corticosteroids
• Duchenne muscular dystrophy
• extracellular vesicles
• microRNAs
• plasma

• All authors: Catapano, F.; Scaglioni, D.; Maresh, K.; Ala, P.; Domingos, J.; Selby, V.; Ricotti, V.; Phillips, L.; Servais, L.; Seferian, A.; Groot, I. de; Krom, Y.D.; Voit, T.; Verschuuren, J.J.G.M.; Niks, E.H.; Straub, V.; Morgan, J.; Muntoni, F.
• Date: 2020-11-20
• Journal: Epigenomics
• Volume: 12
• Issue: 21
• Pages: 1899 - 1915
• DOI: doi:10.2217/epi-2020-0052