Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.
Abstract: We recently reported on a linkage study within a Quarter Horse lineage segregating hyperkalaemic periodic paralysis (HYPP), an autosomal dominant condition showing potassium-induced attacks of skeletal muscle paralysis. HYPP co-segregated with the equine adult skeletal muscle sodium channel alpha subunit gene, the same gene that causes human HYPP. We now describe the Phe to Leu mutation in transmembrane domain IVS3 which courses the horse disease. This represents the first application of molecular genetics to an important horse disease, and the data will provide an opportunity for control or eradication of this condition.
Publication Date: 1992-10-01 PubMed ID: 1338908DOI: 10.1038/ng1092-144Google 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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The research article discusses an identified sodium channel mutation causing hyperkalaemic periodic paralysis (HYPP) in Quarter Horses, which was found to be spread through selective breeding.
Understanding Hyperkalaemic Periodic Paralysis (HYPP)
- HYPP is a hereditary muscle disorder that causes potentially life-threatening episodes of paralysis in horses.
- It is an autosomal dominant condition, meaning that only one parent needs to carry the gene for it to potentially be passed onto offspring.
- Horses with HYPP experience attacks of skeletal muscle paralysis that are incited by high potassium levels in their bloodstream.
The Role of Sodium Channels in HYPP
- Sodium channels play a crucial role in muscle contraction. They are composed of various subunits, one of them being the alpha subunit.
- In the study, the gene responsible for the production of this alpha subunit was found linked to HYPP. This is interesting because the same gene is responsible for causing HYPP in humans as well.
- A specific mutation was identified, the replacement of the amino acid Phenylalanine (Phe) with Leucine (Leu) in one segment of the sodium channel, known as transmembrane domain IVS3.
Implications of the Study
- This research is a pioneering example of applying molecular genetics to horse diseases. By identifying the genetic basis for HYPP, it paves the way for potential prevention and eradication of this disease from the Quarter Horse breed.
- As the mutation is disseminated through selective breeding, understanding the cause can inform more responsible breeding practices to reduce the propagation of this genetic disorder.
Cite This Article
APA
Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP.
(1992).
Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.
Nat Genet, 2(2), 144-147.
https://doi.org/10.1038/ng1092-144 Publication
Researcher Affiliations
- Department of Molecular Genetics, University of Pittsburgh School of Medicine, Pennsylvania 15261.
MeSH Terms
- Amino Acid Sequence
- Animals
- DNA / genetics
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Homozygote
- Horse Diseases / genetics
- Horses
- Inbreeding
- Male
- Molecular Sequence Data
- Paralyses, Familial Periodic / genetics
- Paralyses, Familial Periodic / veterinary
- Pedigree
- Point Mutation
- Sequence Homology, Amino Acid
- Sodium Channels / genetics
Citations
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