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 <i>PYGM</i> gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of...
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MDPI AG
2021-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/1/74 |
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| author | Mónica Villarreal-Salazar Astrid Brull Gisela Nogales-Gadea Antoni L. Andreu Miguel A. Martín Joaquín Arenas Alfredo Santalla Alejandro Lucia John Vissing Thomas O. Krag Tomàs Pinós |
| author_facet | Mónica Villarreal-Salazar Astrid Brull Gisela Nogales-Gadea Antoni L. Andreu Miguel A. Martín Joaquín Arenas Alfredo Santalla Alejandro Lucia John Vissing Thomas O. Krag Tomàs Pinós |
| author_sort | Mónica Villarreal-Salazar |
| collection | DOAJ |
| description | McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the <i>PYGM</i> 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. |
| first_indexed | 2024-03-10T01:26:15Z |
| format | Article |
| id | doaj.art-d2e6426642f5404c889b001d3cca2021 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T01:26:15Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-d2e6426642f5404c889b001d3cca20212023-11-23T13:51:55ZengMDPI AGGenes2073-44252021-12-011317410.3390/genes13010074Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic StrategiesMónica Villarreal-Salazar0Astrid Brull1Gisela Nogales-Gadea2Antoni L. Andreu3Miguel A. Martín4Joaquín Arenas5Alfredo Santalla6Alejandro Lucia7John Vissing8Thomas O. Krag9Tomàs Pinós10Mitochondrial and Neuromuscular Disorders Unit, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, 08035 Barcelona, SpainNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USAGrup de Recerca en Malalties Neuromusculars i Neuropediàtriques, Department of Neurosciences, Institut d’Investigacio en Ciencies de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Barcelona, SpainEATRIS, European Infrastructure for Translational Medicine, 1081 HZ Amsterdam, The NetherlandsCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, SpainCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, SpainDepartment of Sport Sciences, Universidad Pablo de Olavide, 41013 Sevilla, SpainFaculty of Sport Sciences, European University, 28670 Madrid, SpainCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, DenmarkCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, DenmarkMitochondrial and Neuromuscular Disorders Unit, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, 08035 Barcelona, SpainMcArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the <i>PYGM</i> 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.https://www.mdpi.com/2073-4425/13/1/74McArdle diseaseglycogenglycogen phosphorylaseresearch modelstreatments |
| spellingShingle | Mónica Villarreal-Salazar Astrid Brull Gisela Nogales-Gadea Antoni L. Andreu Miguel A. Martín Joaquín Arenas Alfredo Santalla Alejandro Lucia John Vissing Thomas O. Krag Tomàs Pinós Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies Genes McArdle disease glycogen glycogen phosphorylase research models treatments |
| title | 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_short | 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 |
| topic | McArdle disease glycogen glycogen phosphorylase research models treatments |
| url | https://www.mdpi.com/2073-4425/13/1/74 |
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