Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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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 patho-physiology 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.
Originalsprog | Engelsk |
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Artikelnummer | 74 |
Tidsskrift | Genes |
Vol/bind | 13 |
Udgave nummer | 1 |
ISSN | 2073-4425 |
DOI | |
Status | Udgivet - 2022 |
Bibliografisk note
Funding Information:
Funding: The present manuscript was funded by grants received from the Fondo de Investigaciones Sanitarias (FIS, grant PI19/01313 and PI17/2052) and co-funded by “Fondos FEDER”.
Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
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