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

Author:

Catapano Francesco1ORCID,Scaglioni Dominic1ORCID,Maresh Kate1ORCID,Ala Pierpaolo1,Domingos Joana1,Selby Victoria1,Ricotti Valeria2,Phillips Lauren3,Servais Laurent45,Seferian Andreea4,Groot Imelda de6,Krom Yvonne D.78,Voit Thomas2,Verschuuren J.J.G.M.78,Niks E.H.78,Straub Volker9,Morgan Jennifer12,Muntoni Francesco12

Affiliation:

1. The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, United Kingdom

2. National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London WC1N 1EH, United Kingdom

3. John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

4. Institute I-Motion, Hôpital Armand Trousseau, Paris, France

5. Centre de Référence des maladies Neuromusculaires, CHU de Liège, Liège, Belgium

6. Department of Rehabilitation, Amalia Children's Hospital, Radboud university medical centre, Nijmegen, Netherlands

7. Department of Neurology, Leiden University Medical Center, RC Leiden, Netherlands

8. Duchenne Center Netherlands

9. Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom

Abstract

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.

Funder

Association Française Contre Les Myopathies

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

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