Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
| Autor: | Real-Martinez, A., Brull, Astrid, Huerta, Jordi, Tarrasó, G., Lucia, Alejandro, Martin, M. A., Arenas, Joaquín, Andreu, A. L., Nogales, Gisela, Vissing, John, Krag, Thomas, de Luna Salva, Noemí, Pinós, T., Universitat Autònoma de Barcelona |
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| Přispěvatelé: | Institut Català de la Salut, [Real-Martinez A, Huerta J, Tarrasó G] Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Brull A] Sorbonne Université, Center of Research in Myology, Paris, France. [Lucia A] Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain. Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+ 12), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Martin MA] Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+ 12), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Andreu AL, Pinós T] Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona (UAB), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CIBER de Enfermedades Raras (CIBERER), Universidad Europea de Madrid, University of Copenhagen = Københavns Universitet (KU), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Centre de recherche en Myologie – U974 SU-INSERM |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Aging Muscle Fibers Skeletal Enfermedad cardiovascular lcsh:Medicine Degeneration (medical) Fisiología humana Aparato circulatorio enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V [ENFERMEDADES] Mice chemistry.chemical_compound 0302 clinical medicine Fibrosis Medicine técnicas de investigación::modelos animales [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] lcsh:Science Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice [ORGANISMS] Otros calificadores::Otros calificadores::/metabolismo [Otros calificadores] Multidisciplinary biology Glycogen Other subheadings::Other subheadings::/metabolism [Other subheadings] Deporte 3. Good health Muscular Atrophy Ratolins - Metabolisme medicine.symptom medicine.medical_specialty Congenital Hereditary and Neonatal Diseases and Abnormalities::Genetic Diseases Inborn::Metabolism Inborn Errors::Carbohydrate Metabolism Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V [DISEASES] Transgene Mice Transgenic Exercise intolerance Article 03 medical and health sciences Glycogen phosphorylase Internal medicine Other subheadings::Other subheadings::Other subheadings::/mortality [Other subheadings] Animals Glycogen synthase Survival rate Inflammation Otros calificadores::Otros calificadores::Otros calificadores::/mortalidad [Otros calificadores] business.industry Enfermedades raras lcsh:R Glicogenosi - Mortalitat medicine.disease Disease Models Animal Efectos fisiológicos 030104 developmental biology Endocrinology chemistry biology.protein Glycogen Storage Disease Type V lcsh:Q Investigative Techniques::Models Animal [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] business Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones [ORGANISMOS] 030217 neurology & neurosurgery [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| Zdroj: | Scientific Reports r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Scientia Scientific Reports, Nature Publishing Group, 2019, 9, pp.5116. ⟨10.1038/s41598-019-41414-8⟩ r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019) Real-Martinez, A, Brull, A, Huerta, J, Tarrasó, G, Lucia, A, Martin, M A, Arenas, J, Andreu, A L, Nogales-Gadea, G, Vissing, J, Krag, T O, de Luna, N & Pinós, T 2019, ' Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model ', Scientific Reports, vol. 9, no. 1, 5116 . https://doi.org/10.1038/s41598-019-41414-8 ABACUS. Repositorio de Producción Científica Universidad Europea (UEM) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-019-41414-8⟩ |
| Popis: | Survival rate; McArdle disease; Mouse model Taxa de supervivència; Malaltia de McArdle; Model de ratolí Tasa de supervivencia; Enfermedad de McArdle; Modelo de ratón McArdle disease is an autosomal recessive disorder caused by the absence of the muscle glycogen phosphorylase, which leads to impairment of glycogen breakdown. The McArdle mouse, a model heavily affected by glycogen accumulation and exercise intolerance, was used to characterize disease progression at three different ages. The molecular and histopathological consequences of the disease were analyzed in five different hind-limb muscles (soleus, extensor digitorum longus, tibialis anterior, gastrocnemius and quadriceps) of young (8-week-old), adult (35-week-old) and old (70-week-old) mice. We found that McArdle mice have a high perinatal and post-weaning mortality. We also observed a progressive muscle degeneration, fibrosis and inflammation process that was not associated with an increase in muscle glycogen content during aging. Additionally, this progressive degeneration varied among muscle and fiber types. Finally, the lack of glycogen content increase was associated with the inactivation of glycogen synthase and not with compensatory expression of the Pygl and/or Pygb genes in mature muscle. ISCIII CD14/00032/Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) |
| Databáze: | OpenAIRE |
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