Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations
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-...
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2013-01-01
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Series: | The Scientific World Journal |
Online Access: | http://dx.doi.org/10.1155/2013/531465 |
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author | Antonella Carsana |
author_facet | Antonella Carsana |
author_sort | Antonella Carsana |
collection | DOAJ |
description | 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. |
format | Article |
id | doaj-art-aa3fff61d5ef4c92b249b07aafba408e |
institution | Kabale University |
issn | 1537-744X |
language | English |
publishDate | 2013-01-01 |
publisher | Wiley |
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series | The Scientific World Journal |
spelling | doaj-art-aa3fff61d5ef4c92b249b07aafba408e2025-02-03T05:51:08ZengWileyThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/531465531465Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence VariationsAntonella Carsana0Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyExertional 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.http://dx.doi.org/10.1155/2013/531465 |
spellingShingle | Antonella Carsana Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations The Scientific World Journal |
title | Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations |
title_full | Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations |
title_fullStr | Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations |
title_full_unstemmed | Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations |
title_short | Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations |
title_sort | exercise induced rhabdomyolysis and stress induced malignant hyperthermia events association with malignant hyperthermia susceptibility and ryr1 gene sequence variations |
url | http://dx.doi.org/10.1155/2013/531465 |
work_keys_str_mv | AT antonellacarsana exerciseinducedrhabdomyolysisandstressinducedmalignanthyperthermiaeventsassociationwithmalignanthyperthermiasusceptibilityandryr1genesequencevariations |