Toni Andreu, EATRIS Scientific Director co-authored a review paper in Genes

Published 3 January 2022

Toni Andreu (EATRIS Scientific Director) has co-authored a review paper in ‘Genes‘ with European colleagues about research models and therapeutic strategies for McArdle disease, a rare disease that affects the metabolism in skeletal muscle.

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 characterised 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 review paper, the authors 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.

Find out more and download the publication here.