dc.contributor
Institut Català de la Salut
dc.contributor
[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.
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Real Martinez, Alberto
dc.contributor.author
Brull, Astrid
dc.contributor.author
Huerta Alonso, Jordi
dc.contributor.author
Martín, Miguel A.
dc.contributor.author
Andreu Périz, Antonio Luis
dc.contributor.author
Pinós Figueras, Tomàs
dc.contributor.author
Tarrasó Urios, Guillermo
dc.contributor.author
Lucia, Alejandro
dc.date.accessioned
2025-10-24T08:54:38Z
dc.date.available
2025-10-24T08:54:38Z
dc.date.issued
2019-05-23T10:37:05Z
dc.date.issued
2019-05-23T10:37:05Z
dc.date.issued
2019-03-26
dc.identifier
Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, et al. Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model. Sci Rep. 2019;9(1):5116.
dc.identifier
https://hdl.handle.net/11351/4083
dc.identifier
10.1038/s41598-019-41414-8
dc.identifier
WOS:000462298600003
dc.identifier.uri
http://hdl.handle.net/11351/4083
dc.description.abstract
Survival rate; McArdle disease; Mouse model
dc.description.abstract
Taxa de supervivència; Malaltia de McArdle; Model de ratolí
dc.description.abstract
Tasa de supervivencia; Enfermedad de McArdle; Modelo de ratón
dc.description.abstract
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.
dc.description.abstract
ISCIII CD14/00032/Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III)
dc.format
application/pdf
dc.publisher
Nature Research
dc.relation
Scientific Reports;9(1)
dc.relation
https://www.nature.com/articles/s41598-019-41414-8
dc.rights
Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Glicogenosi - Mortalitat
dc.subject
Ratolins - Metabolisme
dc.subject
DISEASES::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
dc.subject
Other subheadings::Other subheadings::Other subheadings::Other subheadings::/mortality
dc.subject
Other subheadings::Other subheadings::Other subheadings::/metabolism
dc.subject
ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT::Investigative Techniques::Models, Animal
dc.subject
ENFERMEDADES::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
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/mortalidad
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/metabolismo
dc.subject
ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::modelos animales
dc.title
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
