Francesco Catapano1, Joana Domingos1, Mark Perry2, Valeria Ricotti1, Lauren Phillips3, Laurent Servais4,5, Andreea Seferian4, Imelda de Groot6, Yvonne D Krom7, Erik H Niks7, Jan Jgm Verschuuren7, Volker Straub8, Thomas Voit9, Jennifer Morgan1, Francesco Muntoni1. 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.
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.