title: Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.
abstract: Exertional rhabdomyolysis (ER) and stress-induced malignant hyperthermia (MH) events are syndromes that primarily afflict military recruits in basic training and athletes. Events similar to those occurring in ER and in stress-induced MH events are triggered after exposure to anesthetic agents in MH-susceptible (MHS) patients. MH is an autosomal dominant hypermetabolic condition that occurs in genetically predisposed subjects during general anesthesia, induced by commonly used volatile anesthetics and/or the neuromuscular blocking agent succinylcholine. Triggering agents cause an altered intracellular calcium regulation. Mutations in RYR1 gene have been found in about 70% of MH families. The RYR1 gene encodes the skeletal muscle calcium release channel of the sarcoplasmic reticulum, commonly known as ryanodine receptor type 1 (RYR1). The present work reviews the documented cases of ER or of stress-induced MH events in which RYR1 sequence variations, associated or possibly associated to MHS status, have been identified.
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy. carsana@unina.it
authors.forename: Antonella
authors.initials: A
authors.lastname: Carsana
mesh_terms: D001483:Base Sequence; D002118:Calcium / Q000378:metabolism; D004198:Disease Susceptibility / Q000473:pathology; D014644:Genetic Variation; D006801:Humans; D008305:Malignant Hyperthermia / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000293:injuries / Q000378:metabolism; D020125:Mutation, Missense; D005082:Physical Exertion; D012206:Rhabdomyolysis / Q000378:metabolism / Q000473:pathology*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism; D013314:Stress, Mechanical; D013312:Stress, Physiological
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium