Preclinical Research in McArdle Disease : A Review of Research Models and Therapeutic Strategies
Villarreal-Salazar, Mónica (Hospital Universitari Vall d'Hebron)
Brull, Astrid (National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda)
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Andreu Périz, Antoni Lluís (EATRIS, European Infrastructure for Translational Medicine)
Martín, Miguel Angel (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Arenas, Joaquín (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática)
Lucia, Alejandro (European University. Faculty of Sport Sciences)
Vissing, John (Copenhagen University Hospital Rigshospitalet)
Krag, Thomas (Copenhagen University Hospital Rigshospitalet)
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	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.
Grants:	Instituto de Salud Carlos III PI19/01313 Instituto de Salud Carlos III PI17/2052
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	McArdle disease ; Glycogen ; Glycogen phosphorylase ; Research models ; Treatments
Published in:	Genes, Vol. 13 (december 2021) , ISSN 2073-4425

DOI: 10.3390/genes13010074
PMID: 35052414

18 p, 365.4 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Research articles
Articles > Published articles