Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model
| Autor: | Brull, Astrid, Luna, Noemí de, Blanco-Grau, A, Lucía Mulas, Alejandro, Martín Casanueva, Miguel Ángel, Arenas, Joaquín, Martí, Ramón, Andreu, Antoni L., Pinós, Tomás |
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| Rok vydání: | 2015 |
| Předmět: |
Ciencia
Male Enfermedades - McArdle Glycogen Phosphorylase Salud Mice Transgenic musculoskeletal system Ejercicio físico Genética Knock-in mouse Muscle phenotype Disease Models Animal Phenotype Physical Conditioning Animal Animals Glycogen Storage Disease Type V Protein Isoforms Female RNA Messenger Muscle Skeletal Glycogen |
| Zdroj: | Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid ABACUS. Repositorio de Producción Científica Universidad Europea (UEM) |
| Popis: | McArdle disease, caused by inherited deficiency of the enzyme muscle glycogen phosphorylase (GP-MM), is arguably the paradigm of exercise intolerance. The recent knock-in (p.R50X/p.R50X) mouse disease model allows an investigation of the phenotypic consequences of muscle glycogen unavailability and the physiopathology of exercise intolerance. We analysed, in 2-month-old mice [wild-type (wt/wt), heterozygous (p.R50X/wt) and p.R50X/p.R50X)], maximal endurance exercise capacity and the molecular consequences of an absence of GP-MM in the main glycogen metabolism regulatory enzymes: glycogen synthase, glycogen branching enzyme and glycogen debranching enzyme, as well as glycogen content in slow-twitch (soleus), intermediate (gastrocnemius) and glycolytic/fast-twitch (extensor digitorum longus; EDL) muscles. Fondo de Investigaciones Sanitarias (FIS) PI12/00914 4.731 JCR (2015) Q1, 46/256 Neurosciences, 7/83 Physiology UEM |
| Databáze: | OpenAIRE |
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