McArdle disease is a rare glycogen storage disorder of skeletal muscle with a reported incidence of about 1:100,000. The condition affects the ability of skeletal muscle to metabolize stored glycogen. It is manifested in exercise intolerance (pain and fatigue), muscle contractures, and episodes of acute rhabdomyolysis, which can lead to acute kidney failure requiring dialysis. The disorder is caused by recessive mutations in the gene encoding the muscle glycogen phosphorylase (PYGM). Until very recently, it had not even been posed that PYGM could also be expressed in tissues other than skeletal muscle. We now know that human T lymphocytes also express PYGM and its expression is the key in order to control T cell migration and proliferation. This source of PYGM can be also used to perform genetic diagnosis of the disease. Therefore, it should not be excluded that other tissues, such as the retina or thyroid gland, and even brain may also express PYGM which could explain the co-morbidities present in some patients with McArdle disease.

The purpose of this Special Issue of IJMS is to explore this paradigm from a basic research point of view, to better understand the molecular mechanisms of the disease in order to improve the lives of McArdle disease patients. Therefore, this Special Issue provides an excellent opportunity to cover studies and reports on cell cultures, animal models, revealing new knowledge about the underlying pathophysiology/pathogenesis, or new aspects that could affect positively the progressive development of efficient molecules to fight this rare disease effectively.

Prof. José L Zugaza
Guest Editor

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• Glycogen
• Glycogen phosphorylase
• Small GTPases
• Cell signaling
• Skeletal muscle
• Immune system
• Brain
• McArdle disease