Horse (Equus caballus) — Equine rhabdomyolysis syndrome; Polysaccharide storage myopathy; Tying-up (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Horse (Equus caballus)Disorder: Equine rhabdomyolysis syndrome; Polysaccharide storage myopathy; Tying-upMode of inheritance: The disorder is definitely familial, and there are suggestions of autosomal recessive inheritance. However, the published data are inconclusive on this point (Valberg et al., 1996). Dranchak et al. (2005) performed a segregation analysis that excluded all forms of single-locus inheritance other than autosomal dominant.Summary: Valber et al. (1996) identified a polysaccharide storage myopathy (a glycogen storage disorder) associated with exertional rhabdomyolysis in Quarter-horse related breeds.Clin feat: As summarised by McCue et al. (2008): "The phenotypic expression of PSSM ranges from muscle atrophy and progressive weakness in Draft horse breeds to muscle soreness and gait abnormalities in Warmblood breeds, and acute exertional rhabdomyolysis in Quarter Horses. The severity of clinical signs in PSSM ranges from muscle cramping and stretching out . . . to severe muscle pain and myoglobinuria and occasionally the complete inability to rise".Pathology: Widespread presence of subsarcolemmal vacuoles and PAS-positive inclusions (Valberg et al., 1996).Prevalence: As reported by McCue et al. (2008), "The His309 allele was found in either heterozygous or homozygous form in 356 horses from 15 different breeds including Quarter Horses, Paint horses, Appaloosa horses, 5 Draft horse breeds, 3 Warmblood breeds, the Morgan, Mustang, Rocky Mountain Horse breeds, as well as mixed breed horses and Warmblood horses of unspecified breed." Its frequency ranged "from 0.035 to 0.350 in different breeds". The presence of this allele in so many breeds suggests ancient origins. McCue et al. (2008) estimated its mean age at 159 generations, which means that "this mutation likely originated between 1200 to 1500 years ago . . . , prior to the separation of the modern breeds known today". McCoy et al. (2013) reported evidence that the 309His "mutation underwent historical selection in the Belgian [because "Under historical conditions of daily work and limited feed, excess muscle glycogen may have been advantageous"], but not in the Quarter Horse".
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: GSY1 (Entrez Gene ID 4157416) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Noting that the only functional comparative gene in the candidate region of HSA19 was GYS1, McCue et al. (2008) sequenced this gene in a likely homozygous affected horse and a control horse, discovering a missense mutation (c.?G>A; p.Arg309His) whose segregation in other affected and normal horses was consistent with causality. Interestingly, McCue et al. (2008) presented evidence that this is …
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1993. Muscle Histopathology and Plasma Aspartate Aminotrausferase, Creatine Kinase and Myoglobin Changes with Exercise in Horses with Recurrent Exertional Rhabdomyolysis (Erratum for Vol 25, Pg 11, 1993). Equine Veterinary Journal — OMIA Phene_Article / Article
- 1993. Caffeine Contractures, Twitch Characteristics and the Threshold for Ca-2+-Induced Ca-2+ Release in Skeletal Muscle from Horses with Chronic Intermittent Rhabdomyolysis. Research in Veterinary Science — PubMed:PMID8434138 — OMIA Phene_Article / Article
- 1996. Familial basis of exertional rhabdomyolysis in quarter horse-related breeds. American Journal of Veterinary Research — PubMed:PMID8669756 — OMIA Phene_Article / Article
- 1997. Chronic exertional rhabdomyolysis. Veterinary Clinics of North America - Equine Practice — OMIA Phene_Article / Article
- 1997. Genetic markers in standardbred trotters susceptible to the rhabdomyolysis syndrome. Equine Veterinary Journal — PubMed:PMID9104560 — OMIA Phene_Article / Article
- 1997. Exertional rhabdomyolysis and polysaccharide storage myopathy in horses. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article
- 1998. Exertional rhabdomyolysis. Equine Practice — OMIA Phene_Article / Article
- 1998. Dietary control of exertional rhabdomyolysis in horses. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article
- 1998. Renal failure, laminitis, and colitis following severe rhabdomyolysis in a draft horse-cross with polysaccharide storage myopathy. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article
- 1998. Skeletal muscle glycolytic capacity and phosphofructokinase regulation in horses with polysaccharide storage myopathy. American Journal of Veterinary Research — PubMed:PMID9622752 — OMIA Phene_Article / Article
- 1999. Skeletal muscle metabolic response to exercise in horses with 'tying-up' due to polysaccharide storage myopathy. Equine Veterinary Journal — PubMed:PMID9952328 — OMIA Phene_Article / Article
- 1999. Postanaesthetic recumbency in a Belgian filly with polysaccharide storage myopathy. Veterinary Record — PubMed:PMID10070692 — OMIA Phene_Article / Article
- (92 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:611556 (type: trait) — OMIA Group_OMIM (via OMIA_ID)