Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model
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...
| Authors: | , , , , , , , , |
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| Format: | article |
| Publication Date: | 2015 |
| Country: | España |
| Institution: | Universidad Europea (UEM) |
| Repository: | ABACUS. Repositorio de Producción Científica |
| Language: | English |
| OAI Identifier: | oai:abacus.universidadeuropea.com:11268/4007 |
| Online Access: | http://hdl.handle.net/11268/4007 |
| Access Level: | Open access |
| Keyword: | Knock-in mouse Glycogen phosphorylase Muscle phenotype Enfermedades - McArdle Ejercicio físico Genética Ciencia Salud |
| Summary: | 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. |
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