1. miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies
- Author
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Frédérique Magdinier, Gueorgui Kratassiouk, Marcelo Ribeiro Alves, Wilson Savino, Vincent Mouly, Débora M. Portilho, Stéphane Roche, Julie Dumonceaux, Eliane Corrêa de Santana, Anna Polesskaya, Annick Harel-Bellan, Gillian Butler-Browne, Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratory on Thymus Research - Department of Immunology / Laboratório de Pesquisas sobre o Timo - Departamento de Imunologia [Rio de Janeiro], Instituto Oswaldo Cruz / Oswaldo Cruz Institute [Rio de Janeiro] (IOC), Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Laboratório de Pesquisa Clínica em DST e AIDS [Rio de Janeiro], Instituto Nacional de Infectologia Evandro Chagas [Rio de Janeiro] (INI), Génétique moléculaire et destin cellulaire (FRE 3377), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), HAL AMU, Administrateur, Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Fundação Oswaldo Cruz (FIOCRUZ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratório de Pesquisas sobre o Timo, Instituto Oswaldo Cruz / Fiocruz, Laboratório de Pesquisa Clínica em DST-AIDS, Instituto de Pesquisa de Clínica Evandro Chagas, Génétique moléculaire et destin cellulaire ( FRE 3377 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique Médicale et Génomique Fonctionnelle ( GMGF ), and Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS )
- Subjects
Male ,Pathology ,Biopsy ,Skeletal muscle ,Bioinformatics ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Muscle hypertrophy ,Myocyte ,Facioscapulohumeral muscular dystrophy ,Disease ,Muscular dystrophy ,[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics ,Multidisciplinary ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Myogenesis ,MicroRNA ,Muscular Dystrophy, Facioscapulohumeral ,medicine.anatomical_structure ,[ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Differentiation ,Medicine ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Female ,Research Article ,musculoskeletal diseases ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Myoblast ,Science ,Location ,[ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Muscle disorder ,Biology ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,Fetus ,[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,microRNA ,medicine ,Humans ,Muscle, Skeletal ,FSHD ,D4Z4 ,Computational Biology ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Hypertrophy ,medicine.disease ,MicroRNAs ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Case-Control Studies ,Target genes ,Transcriptome ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; Background :Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus opening a new field of investigation for mechanisms leading to FSHD. As microRNAs (miRNAs) play an important role in myogenesis and muscle disorders, in this study we compared miRNAs expression levels during normal and FSHD muscle development. Methods :Muscle biopsies were obtained from quadriceps of both healthy control and FSHD1 fetuses with ages ranging from 14 to 33 weeks of development. miRNA expression profiles were analyzed using TaqMan Human MicroRNA Arrays. Results :During human skeletal muscle development, in control muscle biopsies we observed changes for 4 miRNAs potentially involved in secondary muscle fiber formation and 5 miRNAs potentially involved in fiber maturation. When we compared the miRNA profiles obtained from control and FSHD biopsies, we did not observe any differences in the muscle specific miRNAs. However, we identified 8 miRNAs exclusively expressed in FSHD1 samples (miR-330, miR-331-5p, miR-34a, miR-380-3p, miR-516b, miR-582-5p, miR-517* and miR-625) which could represent new biomarkers for this disease. Their putative targets are mainly involved in muscle development and morphogenesis. Interestingly, these FSHD1 specific miRNAs do not target the genes previously described to be involved in FSHD. Conclusions :This work provides new candidate mechanisms potentially involved in the onset of FSHD pathology. Whether these FSHD specific miRNAs cause deregulations during fetal development, or protect against the appearance of the FSHD phenotype until the second decade of life still needs to be investigated.
- Published
- 2015
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