A rapid detection method for the ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
Abstract: Anesthetic-induced malignant hyperthermia has been documented in Quarter Horses and is caused by a single-point mutation in the ryanodine receptor 1 gene at nucleotide C7360G generating a R2454G amino acid substitution. An accurate, faster molecular test that is less prone to contamination would facilitate screening for the mutation in horses intended for breeding, in those undergoing surgical procedures, and in those with clinical signs compatible with malignant hyperthermia. Objective: To report a rapid and accurate method for the detection of the ryanodine receptor 1 C7360G mutation. Methods: Eleven diseased, 10 healthy, and 225 randomly selected Quarter Horses. Methods: This study included horses with the ryanodine receptor 1 C7360G mutation as detected by gene sequencing. Available genomic and complementary DNA extracted from whole blood, hair or skeletal muscle was used for genetic analysis. Real-time polymerase chain reaction (RT-PCR) melting curve analysis was performed by equine specific primers and 2 hybridization probes (sensor and anchor probes) that contain the site of the mutation. Results from this method were blinded and compared with nucleic acid sequencing for validation. Results: A rapid genotyping assay with fluorescence resonance energy transfer probes and melting curve analysis was accurate (100% agreement, K= 1) for identification of affected horses. The prevalence of the mutation in a random population of Quarter Horses was 1.3%. Conclusions: Malignant hyperthermia in Quarter Horses can be rapidly and accurately detected by RT-PCR melting curve genotyping with hybridization probes.
Publication Date: 2009-03-09 PubMed ID: 19298609DOI: 10.1111/j.1939-1676.2009.0281.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The study is about a rapid detection method for an anesthetic-induced malignant hyperthermia in Quarter Horses, which is caused by a mutation in the ryanodine receptor 1 gene. The research has led to a faster, accurate molecular test that would help in screening horses intended for breeding, surgery or those showing signs of hyperthermia.
Objective
The objective of this study was to develop a quick and accurate method for detecting the ryanodine receptor 1 (C7360G) mutation in Quarter Horses, a mutation that is responsible for anesthetic-induced malignant hyperthermia in these animals.
Methods
- The study included a variety of horses which included 11 sick ones, 10 healthy ones and 225 picked at random.
- The horses with the ryanodine receptor 1 (C7360G) mutation were detected using gene sequencing.
- Genomic and complementary DNA were extracted from different parts of the body of the horses such as whole blood, hair and skeletal muscle for genetic analysis.
- A real-time polymerase chain reaction (RT-PCR) melting curve analysis was performed using specific primers and hybridization probes.
- This was done to identify the location of the mutation. The results of this method were then compared to standard nucleic acid sequencing for validation.
Results
- The rapid genotyping test developed for this study had a 100% agreement in identifying the affected horses.
- With the use of fluorescence resonance energy transfer probes and melting curve analysis, the test was established to be accurate.
- The prevalence of the mutation in the randomly selected population of Quarter Horses was found to be 1.3%.
Conclusion
- The research concluded that malignant hyperthermia in Quarter Horses can be rapidly and accurately detected by RT-PCR melting curve genotyping with the use of hybridization probes.
- This test can particularly be useful in screening horses that are for breeding, about to undergo surgery or showing signs of hyperthermia.
Cite This Article
APA
Nieto JE, Aleman M.
(2009).
A rapid detection method for the ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
J Vet Intern Med, 23(3), 619-622.
https://doi.org/10.1111/j.1939-1676.2009.0281.x Publication
Researcher Affiliations
- Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
MeSH Terms
- Animals
- Gene Expression Regulation
- Genotype
- Horses / genetics
- Malignant Hyperthermia / genetics
- Malignant Hyperthermia / veterinary
- Mutation
- Nucleic Acid Denaturation / genetics
- Reverse Transcriptase Polymerase Chain Reaction / instrumentation
- Reverse Transcriptase Polymerase Chain Reaction / veterinary
- Ryanodine Receptor Calcium Release Channel / genetics
Citations
This article has been cited 3 times.- 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.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Aleman M, McCue M, Bellone RR. Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses. J Vet Intern Med 2025 May-Jun;39(3):e70081.
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