Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene.
Abstract: A genetic disease observed in certain Quarter horses is hyperkalaemic periodic paralysis (HYPP). This disease causes attacks of paralysis which can be induced by ingestion of potassium. Recent studies have shown that HYPP in humans is due to single base changes within the adult skeletal muscle sodium channel gene. A large Quarter horse pedigree segregating dominant HYPP was studied to determine if mutations of the sodium channel gene are similarly responsible for HYPP in horses. We used cross-species, PCR-mediated, cDNA cloning and sequencing of the horse adult skeletal muscle sodium channel alpha-subunit gene to identify a polymorphism, and then used this polymorphism to see if the horse sodium channel gene was genetically linked to HYPP in horses. The sodium channel gene was indeed found to be tightly linked to HYPP (LOD = 2.7, theta = 0). Our results suggest that HYPP in horses involves the same gene as the clinically similar human disease, and indicates that these are homologous disorders. The future identification of the specific sodium channel mutation causing HYPP in Quarter horses will permit the development of accurate molecular diagnostics of this condition, as has been recently shown for humans.
Publication Date: 1992-01-01 PubMed ID: 1323940DOI: 10.1111/j.1365-2052.1992.tb00136.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
- Research Support
- U.S. Gov't
- P.H.S.
Summary
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This research article investigates the genetic causes of hyperkalaemic periodic paralysis (HYPP) in Quarter horses. The study found that nearly identical mutations in the sodium channel gene that cause this disease in humans also cause it in Quarter horses, suggesting that the two are homologous disorders.
Objective of the Study
- The main goal of this research was to determine if the mutations of the sodium channel gene noted in humans with hyperkalaemic periodic paralysis (HYPP) were also causing the same disease in Quarter horses.
Methodology
- The research team studied a large Quarter horse pedigree harboring dominant HYPP and implemented a cross-species, PCR-mediated, cDNA cloning and sequencing method to identify the horse adult skeletal muscle sodium channel alpha-subunit gene.
- A polymorphism within this gene was identified, and the researchers used this polymorphism as an indicator to ascertain if the horse sodium channel gene was genetically linked to HYPP in horses.
Results
- The results displayed a tight linkage between the sodium channel gene and HYPP in horses, with a logarithm of the odds (LOD) score of 2.7, indicating a strong genetic association.
- This finding suggests that the clinically similar human disease and HYPP in horses involve the same gene, categorizing these conditions as homologous disorders.
Implications and Future Directions
- The identification of this link offers insights into the molecular mechanics of the disease and can aid in future development of accurate diagnostics.
- The future identification of the specific sodium channel mutation causing HYPP in Quarter horses will allow for the development of exact molecular diagnostics of this condition, as has been the case in humans.
Cite This Article
APA
Rudolph JA, Spier SJ, Byrns G, Hoffman EP.
(1992).
Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene.
Anim Genet, 23(3), 241-250.
https://doi.org/10.1111/j.1365-2052.1992.tb00136.x Publication
Researcher Affiliations
- Department of Molecular Genetics & Biochemistry, University of Pittsburgh School of Medicine, Pennsylvania 15261.
MeSH Terms
- Animals
- Base Sequence
- DNA Restriction Enzymes / genetics
- Female
- Genetic Linkage / genetics
- Genotype
- Horse Diseases / genetics
- Horses
- Hyperkalemia / genetics
- Hyperkalemia / veterinary
- Male
- Molecular Sequence Data
- Muscles
- Mutation / genetics
- Paralyses, Familial Periodic / blood
- Paralyses, Familial Periodic / genetics
- Paralyses, Familial Periodic / veterinary
- Pedigree
- Polymorphism, Genetic / genetics
- RNA, Messenger / genetics
- Sodium Channels / genetics
Grant Funding
- AR41025 / NIAMS NIH HHS
Citations
This article has been cited 10 times.- 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.
- Kingsley NB, Kern C, Creppe C, Hales EN, Zhou H, Kalbfleisch TS, MacLeod JN, Petersen JL, Finno CJ, Bellone RR. Functionally Annotating Regulatory Elements in the Equine Genome Using Histone Mark ChIP-Seq.. Genes (Basel) 2019 Dec 18;11(1).
- Husulak ML, Lohmann KL, Gabadage K, Wojnarowicz C, Marqués FJ. Equine motor neuron disease in 2 horses from Saskatchewan.. Can Vet J 2016 Jul;57(7):771-6.
- 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.
- Nicholas FW, Hobbs M. Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.. Anim Genet 2014 Apr;45(2):157-70.
- Andersson LS, Lyberg K, Cothran G, Ramsey DT, Juras R, Mikko S, Ekesten B, Ewart S, Lindgren G. Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases.. Mamm Genome 2011 Jun;22(5-6):353-60.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer.. Equine Vet J 2010 Oct;42(7):658-70.
- Andersson LS, Juras R, Ramsey DT, Eason-Butler J, Ewart S, Cothran G, Lindgren G. Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6.. BMC Genet 2008 Dec 19;9:88.
- Wang J, Zhou J, Todorovic SM, Feero WG, Barany F, Conwit R, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K, Wessel HB. Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.. Am J Hum Genet 1993 Jun;52(6):1074-84.
- Naylor JM. Equine hyperkalemic periodic paralysis: review and implications.. Can Vet J 1994 May;35(5):279-85.
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