Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients

Author:

Catapano Francesco1,Domingos Joana1,Perry Mark2,Ricotti Valeria1,Phillips Lauren3,Servais Laurent45,Seferian Andreea4,Groot Imelda de6,Krom Yvonne D7,Niks Erik H7,Verschuuren Jan JGM7,Straub Volker8,Voit Thomas9,Morgan Jennifer1,Muntoni Francesco1

Affiliation:

1. The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK

2. School of Pharmacy & Biomedical Sciences, University of Portsmouth, St Michael's Building, Portsmouth PO1 2DT, UK

3. John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK

4. Institute I-Motion, Hôpital Armand Trousseau, Paris 75571-12, France

5. Centre de Référence des maladies Neuromusculaires, CHU de Liège, Liège 4000, Belgium

6. Department of Rehabilitation, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen 6525 GA, The Netherlands

7. Department of Neurology, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands

8. Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK

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

Abstract

Aim: To study the signature of 87 urinary miRNAs in Duchenne muscular dystrophy (DMD) patients, select the most dysregulated and determine statistically significant differences in their expression between controls, ambulant (A) and nonambulant (NA) DMD patients, and patients on different corticosteroid regimens. Patients/materials & methods: Urine was collected from control (n = 20), A (n = 31) and NA (n = 23) DMD patients. miRNA expression was measured by reverse transcription-quantitative PCR. Results: miR-29c-3p was significantly downregulated in A DMD patients while miR-23b-3p and miR-21-5p were significantly downregulated in NA DMD patients compared with age-matched controls. Conclusion: miR-29c-3p, miR-23b-3p and miR-21-5p are promising novel noninvasive biomarkers for DMD, and miR-29c-3p levels are differentially affected by different steroid regimens, supporting the antifibrotic effect of steroid therapy.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

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