Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute "crises" of early fa...

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Autores: Villarreal Salazar, Mónica, Brull, Astrid, Nogales-Gadea, Gisela, Andreu, Antoni L., Martín Casanueva, Miguel Ángel, Arenas, Joaquín, Santalla Hernández, Alfredo, Lucía Mulas, Alejandro, Vissing, John, Krag, Thomas O., Pinós, Tomás
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universidad Europea (UEM)
Repositorio:ABACUS. Repositorio de Producción Científica
Idioma:inglés
OAI Identifier:oai:abacus.universidadeuropea.com:11268/11043
Acceso en línea:http://hdl.handle.net/11268/11043
Access Level:acceso abierto
Palabra clave:Enfermedad del almacenamiento de glucógeno tipo V
Metabolismo
Enfermedad cardiovascular
Genética
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spelling Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic StrategiesVillarreal Salazar, MónicaBrull, AstridNogales-Gadea, GiselaAndreu, Antoni L.Martín Casanueva, Miguel ÁngelArenas, JoaquínSantalla Hernández, AlfredoLucía Mulas, AlejandroVissing, JohnKrag, Thomas O.Pinós, TomásEnfermedad del almacenamiento de glucógeno tipo VMetabolismoEnfermedad cardiovascularGenéticaMcArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute "crises" of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient's phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients.20222022-04-0920222022-01-0120222022-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/11268/11043reponame:ABACUS. Repositorio de Producción Científicainstname:Universidad Europea (UEM)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:abacus.universidadeuropea.com:11268/110432026-06-11T12:41:27Z
dc.title.none.fl_str_mv Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
title Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
spellingShingle Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Villarreal Salazar, Mónica
Enfermedad del almacenamiento de glucógeno tipo V
Metabolismo
Enfermedad cardiovascular
Genética
title_short Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
title_full Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
title_fullStr Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
title_full_unstemmed Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
title_sort Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
dc.creator.none.fl_str_mv Villarreal Salazar, Mónica
Brull, Astrid
Nogales-Gadea, Gisela
Andreu, Antoni L.
Martín Casanueva, Miguel Ángel
Arenas, Joaquín
Santalla Hernández, Alfredo
Lucía Mulas, Alejandro
Vissing, John
Krag, Thomas O.
Pinós, Tomás
author Villarreal Salazar, Mónica
author_facet Villarreal Salazar, Mónica
Brull, Astrid
Nogales-Gadea, Gisela
Andreu, Antoni L.
Martín Casanueva, Miguel Ángel
Arenas, Joaquín
Santalla Hernández, Alfredo
Lucía Mulas, Alejandro
Vissing, John
Krag, Thomas O.
Pinós, Tomás
author_role author
author2 Brull, Astrid
Nogales-Gadea, Gisela
Andreu, Antoni L.
Martín Casanueva, Miguel Ángel
Arenas, Joaquín
Santalla Hernández, Alfredo
Lucía Mulas, Alejandro
Vissing, John
Krag, Thomas O.
Pinós, Tomás
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Enfermedad del almacenamiento de glucógeno tipo V
Metabolismo
Enfermedad cardiovascular
Genética
topic Enfermedad del almacenamiento de glucógeno tipo V
Metabolismo
Enfermedad cardiovascular
Genética
description McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute "crises" of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient's phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-04-09
2022
2022-01-01
2022
2022-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/11268/11043
url http://hdl.handle.net/11268/11043
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:ABACUS. Repositorio de Producción Científica
instname:Universidad Europea (UEM)
instname_str Universidad Europea (UEM)
reponame_str ABACUS. Repositorio de Producción Científica
collection ABACUS. Repositorio de Producción Científica
repository.name.fl_str_mv
repository.mail.fl_str_mv
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