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

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*

*Corresponding author for this work

Research output: Contribution to journalReviewResearchpeer-review

4 Citations (Scopus)
11 Downloads (Pure)

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 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.

Original languageEnglish
Article number74
JournalGenes
Volume13
Issue number1
ISSN2073-4425
DOIs
Publication statusPublished - 2022

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Keywords

  • Glycogen
  • Glycogen phosphorylase
  • McArdle disease
  • Research models
  • Treatments

Cite this