Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
Abstract: Anesthetic-induced malignant hyperthermia (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution. However, there have been no reports of nonanesthetic manifestations of MH in horses with the C7360G mutation. Objective: To describe clinical manifestations of Quarter Horses with the C7360G mutation. Methods: Eleven Quarter Horses with the RyR1 C7360G mutation. Methods: This prospective study included horses with suspected MH, undetermined etiology of sudden death, death within hours of onset of rhabdomyolysis, muscle rigidity, stiffness, intermittent sweating, and persistent increases in serum muscle enzyme activities. Whole blood in EDTA and skeletal muscle were processed for genetic and histochemical analysis. Medical records and pedigrees were collected when available. Results: Both anesthetic- and non-anesthetic-associated myopathic manifestations of MH occurred in halter Quarter Horses with mutation of RyR1. The disease is inherited as an autosomal dominant trait. Clinical and laboratory abnormalities were similar in both forms. Rhabdomyolysis was a common finding in both groups of horses. Skeletal muscle histochemical findings were nonspecific and compatible with a noninflammatory myopathic process. Conclusions: MH is a potentially fatal disease of Quarter Horses that could be triggered by halogenated anesthetics and other nonanesthetic factors that may include exercise, stress, breeding, illnesses, and concurrent myopathies.
Publication Date: 2009-02-11 PubMed ID: 19220734DOI: 10.1111/j.1939-1676.2009.0274.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research investigates how the mutation at nucleotide C7360G in the ryanodine receptor 1 gene (RyR1) in Quarter Horses causes both anesthetic and non-anesthetic related malignant hyperthermia (MH). The study includes a group of eleven Quarter Horses showing clinical manifestations of the mutation, finding that MH can potentially cause fatal consequences and be triggered by various factors including anesthesia, exercise, stress, and illness.
Objectives
- The aim of this study was to document and describe the clinical manifestations of the MH in Quarter Horses carrying the C7360G mutation in RyR1 gene.
Methods
- The study involved eleven Quarter Horses with the RyR1 C7360G mutation. They were specifically horses suspected with MH or having an undetermined cause of sudden death, death subsequent to rhabdomyolysis, muscle rigidity and stiffness, intermittent sweating, and noted continued increases in serum muscle enzyme activities.
- Whole blood and skeletal muscle samples were processed for genetic and histochemical analysis.
- Medical records, as well as pedigrees, were collected for each horse when available.
Results
- Both anesthetic and non-anesthetic related myopathic manifestations of MH were discovered in the genetically mutated horses.
- The disease was found to be inherited as an autosomal dominant trait, meaning the gene containing the mutation is passed from parent to offspring with a 50% probability.
- Clinical and laboratory abnormalities were found to be common in both forms of MH. Rhabdomyolysis, a condition caused by the breakdown of damaged skeletal muscle, was a frequent finding in both groups of horses.
- Examination of the skeletal muscle showed nonspecific histochemical findings, suggesting the pathology was not due to inflammation but a pathological process in the muscle tissue itself.
Conclusions
- Malignant hyperthermia is a potentially fatal disease in Quarter Horses that can be triggered by a range of factors including halogenated anesthetics and non-anesthetic factors such as exercise, stress, breeding activities, illnesses, and concurrent muscle diseases (myopathies).
Cite This Article
APA
Aleman M, Nieto JE, Magdesian KG.
(2009).
Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
J Vet Intern Med, 23(2), 329-334.
https://doi.org/10.1111/j.1939-1676.2009.0274.x Publication
Researcher Affiliations
- Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Tupper Hall 2108, One Shields Avenue, Davis, CA 95616, USA. mraleman@ucdavis.edu
MeSH Terms
- Animals
- DNA / chemistry
- DNA / genetics
- Female
- Histocytochemistry / veterinary
- Horse Diseases / genetics
- Horses
- Male
- Malignant Hyperthermia / genetics
- Malignant Hyperthermia / veterinary
- Point Mutation
- Prospective Studies
- Ryanodine Receptor Calcium Release Channel / genetics
- Sequence Analysis, DNA
Citations
This article has been cited 8 times.- Gmel AI, Brem G, Neuditschko M. New genomic insights into the conformation of Lipizzan horses.. Sci Rep 2023 Jun 2;13(1):8990.
- Valberg SJ, Finno CJ, Henry ML, Schott M, Velez-Irizarry D, Peng S, McKenzie EC, Petersen JL. Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis.. Equine Vet J 2021 Jul;53(4):690-700.
- Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.. Orphanet J Rare Dis 2020 May 7;15(1):113.
- Valberg SJ, Henry ML, Perumbakkam S, Gardner KL, Finno CJ. An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses.. J Vet Intern Med 2018 Sep;32(5):1718-1725.
- Skelding A, Valverde A. Intra-operative hyperthermia in a young Angus bull with a fatal outcome.. Can Vet J 2017 Jun;58(6):614-616.
- Metzger J, Tonda R, Beltran S, Agueda L, Gut M, Distl O. Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication.. BMC Genomics 2014 Jul 4;15(1):562.
- Fritz KL, McCue ME, Valberg SJ, Rendahl AK, Mickelson JR. Genetic mapping of recurrent exertional rhabdomyolysis in a population of North American Thoroughbreds.. Anim Genet 2012 Dec;43(6):730-8.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer.. Equine Vet J 2010 Oct;42(7):658-70.
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