McAdler's Disease
Channel: Jorge Cameselle
Date: 2018-10-16

McArdle's disease, or V-type glycogenosis, is the result of a deficiency in one of the enzymes responsible for glycogen metabolism in the body. They lack (or have very low concentrations) of the enzyme myophosphorylase or glycogen phosphorylase. McArdle's disease is a hereditary recessive metabolic disease, which means that in order to suffer from it one must receive a copy of the defective gene from both parents. The mutations are located in the PYGM gene (located on chromosome 11q13) responsible for giving the order to synthesize the enzyme myophosphorylase or glycogen phosphorylase. To date, almost a hundred different mutations have been identified. The "McArdle's disease" is present only and exclusively as a myopathy. It is the most common form of muscle glycogenosis. It does not affect the isoforms of glycogen phosphorylase in the myocardium, liver or brain. Myophosphorylase is an essential enzyme for obtaining energy and its deficiency mainly affects the ability of skeletal muscle to perform physical exercises.

Director and Screenwriter: Lucía Cameselle and Jorge Cameselle
Authors: Lucía Cameselle, Beatriz Villar, Teresa Calheiros-Cruz, Mª Elena Charro, Joana Ruibal, Miguel Cameselle, Francisca Turienzo and Jorge Cameselle.
Work center: ADICAM Clinical Oncology Research Center
Producer: Miguel Fernández Ruibal
Collaborators: José Abdon González, Ignacio Colino Cortizo, Miguel Cameselle Teijeiro
English translators: Beatriz Villar Fernández, Sabela Zablackis Villar and Sofía Zablackis Villar.
Narrated by: Eva Álvarez Rojo and Diego Sanmartín Villar.
Director Jorge Cameselle