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Genetic study of hyperkalemic periodic paralysis in horses.

Abstract: Four Quarter Horses (1 stallion, 3 mares) with hyperkalemic periodic paralysis were mated to unaffected horses to determine the genetic basis of the disease. The affected stallion was bred to 11 unaffected mares (4 Quarter Horses, 1 Arabian, 2 Standardbreds, and 4 Thoroughbreds). The 3 affected mares were bred to an unaffected Quarter Horse stallion. Of the 15 offspring obtained from these matings, 9 were affected with hyperkalemic periodic paralysis, and 6 were unaffected, consistent with an autosomal dominant mode of inheritance. Diagnosis was established by results of oral administration of potassium chloride and demonstration of characteristic clinical signs accompanied by hyperkalemia. Oral administration of potassium chloride resulted in marked increases in plasma potassium concentrations in affected and unaffected foals, although hyperkalemia was associated with clinical signs of hyperkalemic periodic paralysis in the affected foals. Evaluation of blood samples from affected and unaffected offspring revealed no linkage with erythrocyte and serum markers at 24 loci.
Publication Date: 1993-03-15 PubMed ID: 8468218
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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This research focuses on understanding the genetic basis of hyperkalemic periodic paralysis (HYPP), a rare muscular disorder, in the context of equine breeding. After breeding four Quarter Horses suffering from HYPP with healthy horses, it was observed that the probability of the offspring being affected is high, suggesting that the disease genetics follow an autosomal dominant inheritance pattern.

Methodology and Research Design

  • Researchers involved four Quarter Horses (three mares and a stallion) suffering from hyperkalemic periodic paralysis in the experiment. These were bred with unaffected horses of various breeds.
  • The affected stallion was crossbred with 11 mares of different breeds – Quarter Horses, Arabian, Standardbreds, and Thoroughbreds – while each of the affected mares was bred with an unaffected Quarter Horse stallion.
  • The offspring (15 in total) from these matings were carefully studied for signs of hyperkalemic periodic paralysis, which include episodes of paralysis and muscle weakness triggered by high levels of potassium in the blood (hyperkalemia).
  • The hyperkalemia and resulting paralysis were diagnosed using potassium chloride, a salt that increases potassium concentrations in blood plasma.

Key Findings

  • Out of the 15 offspring, nine were affected with hyperkalemic periodic paralysis, while six were unaffected.
  • The oral administration of potassium chloride prompted significant increases in plasma potassium levels in both unaffected and affected foals. However, the clinical signs of hyperkalemic periodic paralysis were only observed in the latter.
  • This pattern of roughly half the offspring being affected was consistent with the disease being autosomal dominant, meaning the presence of just one copy of the disease-causing gene is enough to cause the disease.

No Observable Linkage

  • Attempts to find a linkage between the disease and erythrocyte and serum markers at 24 different genetic loci in both the affected and unaffected offspring were not successful.
  • This lack of observable connection means that the markers investigated do not appear to be directly linked to the genetic cause of the disease.

Cite This Article

APA
Spier SJ, Carlson GP, Harrold D, Bowling A, Byrns G, Bernoco D. (1993). Genetic study of hyperkalemic periodic paralysis in horses. J Am Vet Med Assoc, 202(6), 933-937.

Publication

ISSN: 0003-1488
NlmUniqueID: 7503067
Country: United States
Language: English
Volume: 202
Issue: 6
Pages: 933-937

Researcher Affiliations

Spier, S J
  • Department of Medicine, School of Veterinary Medicine, University of California, Davis 95616.
Carlson, G P
    Harrold, D
      Bowling, A
        Byrns, G
          Bernoco, D

            MeSH Terms

            • Animals
            • Blood Grouping and Crossmatching
            • DNA Fingerprinting
            • Female
            • Horse Diseases / genetics
            • Horses
            • Hyperkalemia / genetics
            • Hyperkalemia / veterinary
            • Male
            • Paralysis / genetics
            • Paralysis / veterinary
            • Periodicity
            • Potassium / blood
            • Potassium Chloride

            Citations

            This article has been cited 2 times.
            1. Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer.. Equine Vet J 2010 Oct;42(7):658-70.
            2. Naylor JM. Equine hyperkalemic periodic paralysis: review and implications.. Can Vet J 1994 May;35(5):279-85.
              pubmed: 8050073