The head of the Mitochondrial Disease Laboratory at the Hospital 12 de Octubre i+12, and Universidad Europea professor, Doctor Miguel Ángel Martín Casanueva, has led a study on McArdle disease. The study, published in Genetics in Medicine, proposes a new methodology for diagnosing and understanding the genetic mechanisms of the disease. “This method can be used to analyze the blood cells of patients, who are suspected of developing this disease, for the presence of the messenger RNA of the myophosphorylase enzyme protein”, said Doctor Casanueva.
According to Exercise Physiology professor Alejandro Lucía, a participant in the study, “it is a genetically inherited disease in which patients lack an enzyme (‘myophosphorylase’) needed to break down muscular glycogen (storing carbohydrates in the tissue) and obtain energy from it”. Furthermore, “patients suffering from McArdle have what is known as ‘intolerance to exercise’, in the form of cramps, aches, tachycardia when they begin exercising, and muscular micro-tears that eventually damage the kidney”, added researcher Lucía.
After publishing the study, which also included the collaboration of the Germans Trias y Pujol Research Institute, the Hospital Universitario de Bellvitge and the Instituto de Recerca Vall d'Hebron, Doctor Casanueva stated that the results obtained with this methodology “will allow us to better understand mutations and their pathogenic effect on patients with this disease, which is relevant for its definitive diagnosis, more direct studying of relatives, and the possibility that some therapies may target certain types of mutations”.