Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds.
Abstract: The GYS1 gene mutation that is causative of Type 1 Polysaccharide Storage Myopathy (PSSM) has been identified in more than 20 breeds of horses. However, the GYS1 mutation frequency or Type 1 PSSM prevalence within any given breed is unknown. The purpose of this study was to determine the frequency of the GYS1 mutation and prevalence of genetic susceptibility to Type 1 PSSM in selected breeds from Europe and North America. The GYS1 mutation was detected in 11 breeds, including, in order of increasing allele frequency, Shires, Morgans, Appaloosas, Quarter Horses, Paints, Exmoor Ponies, Saxon-Thuringian Coldbloods, South German Coldbloods, Belgians, Rhenish German Coldbloods and Percherons. The prevalence of genetic susceptibility to Type 1 PSSM in these breeds varied from 0.5% to 62.4%. The GYS1 mutation was not found in the sampled Thoroughbreds, Akhal-Tekes, Connemaras, Clydesdales, Norwegian Fjords, Welsh Ponies, Icelandics, Schleswig Coldbloods or Hanoverians, but failure to detect the mutation does not guarantee its absence. This knowledge will help breed associations determine whether they should screen for the GYS1 mutation and will alert veterinarians to a possible differential diagnosis for muscle pain, rhabdomyolysis or gait abnormalities.
© 2010 The Authors, Journal compilation © 2010 Stichting International Foundation for Animal Genetics.
Publication Date: 2010-11-26 PubMed ID: 21070288DOI: 10.1111/j.1365-2052.2010.02124.xGoogle Scholar: Lookup
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Summary
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The research article under review investigates the prevalence of the Type 1 Polysaccharide Storage Myopathy (PSSM) mutation in different horse breeds from North America and Europe. The study’s findings reveal that the genetic susceptibility to PSSM varies among the different breeds.
Objective of the Study
The study aimed to assess the frequency of the GYS1 gene mutation, which is linked to Type 1 PSSM, in various horse breeds in Europe and North America. It also sets out to determine the prevalence of genetic susceptibility to Type 1 PSSM in these breeds.
Research Methodology
- The researchers examined the presence of the GYS1 mutation across 11 horse breeds.
- The breeds under study included Shires, Morgans, Appaloosas, Quarter Horses, Paints, Exmoor Ponies, Saxon-Thuringian Coldbloods, South German Coldbloods, Belgians, Rhenish German Coldbloods and Percherons.
- The study also inspected other breeds like Thoroughbreds, Akhal-Tekes, Connemaras, Clydesdales, Norwegian Fjords, Welsh Ponies, Icelandics, Schleswig Coldbloods or Hanoverians for the mutation.
Key Findings
- The GYS1 mutation was found in all eleven focal breeds, listed in order of increasing allele frequency.
- The prevalence of genetic susceptibility to Type 1 PSSM among these breeds ranged from as low as 0.5% to as high as 62.4%.
- The GYS1 mutation was not detected in the non-focal breeds examined. However, the absence of detection doesn’t necessarily mean the gene mutation isn’t present in these breeds.
Implications of the Study
- The findings provide crucial information that can guide breed associations in determining whether they should screen for the GYS1 mutation.
- This study provides a potential explanation for muscle pain, gait abnormalities, or rhabdomyolysis in horses.
- Veterinary professionals can use the data to inform their diagnostic considerations when encountering horses exhibiting signs consistent with Type 1 PSSM.
Cite This Article
APA
McCue ME, Anderson SM, Valberg SJ, Piercy RJ, Barakzai SZ, Binns MM, Distl O, Penedo MC, Wagner ML, Mickelson JR.
(2010).
Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds.
Anim Genet, 41 Suppl 2, 145-149.
https://doi.org/10.1111/j.1365-2052.2010.02124.x Publication
Researcher Affiliations
- Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN 55108, USA. mccų@umn.edu
MeSH Terms
- Animals
- Genetic Predisposition to Disease
- Glycogen Storage Disease Type I / epidemiology
- Glycogen Storage Disease Type I / genetics
- Glycogen Storage Disease Type I / veterinary
- Glycogen Synthase / genetics
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horses
- Muscular Diseases / epidemiology
- Muscular Diseases / genetics
- Muscular Diseases / veterinary
- Mutation
- Prevalence
- Species Specificity
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