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Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy.
Abstract: A missense mutation in the GYS1 gene was recently described in horses with polysaccharide storage myopathy (PSSM). Objective: The first objective was to determine the prevalence of the GYS1 mutation in horses with PSSM from diverse breeds. The second objective was to determine if the prevalence of the GYS1 mutation differed between horses diagnosed with PSSM based on grade 1 (typically amylase-sensitive) or grade 2 (typically amylase-resistant) polysaccharide. Methods: Eight hundred and thirty-one PSSM horses from 36 breeds. Methods: Horses with PSSM diagnosed by histopathology of skeletal muscle biopsy samples were identified from the Neuromuscular Disease Laboratory database. Eight hundred and thirty-one cases had blood or tissue that was available for DNA isolation; these 831 cases were genotyped for the GYS1 mutation by restriction fragment length polymorphism. Results: The PSSM mutation was identified in horses from 17 different breeds. The prevalence of the GYS1 mutation in PSSM horses was high in Draft- (87%) and Quarter Horse-related breeds (72%) and lower in Warmbloods (18%) and other light horse breeds (24%), when diagnosis was based on grade 2 diagnostic criteria. Overall, the PSSM mutation was present in 16% of grade 1 and 70% of grade 2 PSSM horses. Conclusions: GYS1 mutation causes PSSM in diverse breeds and is the predominant form of PSSM in Draft- and Quarter Horse-related breeds. False-positive diagnosis, as well as the possibility of a second glycogenosis in horses with neuromuscular disease (type 2 PSSM), might explain the absence of the GYS1 mutation in horses diagnosed with excessive glycogen accumulation in muscle.
Publication Date: 2008-08-06 PubMed ID: 18691366DOI: 10.1111/j.1939-1676.2008.0167.xGoogle Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research investigates the prevalence and influence of a glycogen synthase 1 gene mutation in various horse breeds, particularly those diagnosed with a condition known as polysaccharide storage myopathy. The study informs that the gene mutation is found to be a significant cause in horse breeds such as Draft and Quarter Horse.
Study Objectives
The study aims to examine:
- The prevalence of GYS1 gene mutation in horses from multiple breeds suffering from polysaccharide storage myopathy (PSSM), a disease affecting the horse’s muscles.
- Whether prevalence rates of the mutation differ between horses diagnosed with different grades of polysaccharides: grade 1 (typically amylase-sensitive) and grade 2 (typically amylase-resistant).
Methodology
- The study analyzed 831 horses of 36 breeds diagnosed with PSSM with observable muscle biopsy samples.
- This large sample of cases had blood or tissue accessible for DNA isolation to genotype them for the GYS1 gene mutation; this was achieved by using the method of restriction fragment length polymorphism.
Results
- Researchers found the PSSM mutation in horses from 17 different breeds.
- The prevalence of the mutation was higher in Draft (87%) and Quarter Horse-related breeds (72%) compared to Warmbloods (18%) and other light horse breeds (24%) when the diagnosis was made according to grade 2 diagnostic criteria.
- A view of the entire data showed the mutation was present in 16% of grade 1 and 70% of grade 2 PSSM horses.
Conclusions
- The study concludes that the GYS1 gene mutation is a significant cause of PSSM across varied horse breeds, predominantly in Draft and Quarter Horse-related breeds.
- Researchers also theorize the possibility of false-positive diagnoses or the existence of another type of glycogen storage disorder (type 2 PSSM) in these horses that could explain the absence of the GYS1 mutation in those diagnosed with excessive glycogen accumulation in their muscles.
Cite This Article
APA
McCue ME, Valberg SJ, Lucio M, Mickelson JR.
(2008).
Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy.
J Vet Intern Med, 22(5), 1228-1233.
https://doi.org/10.1111/j.1939-1676.2008.0167.x Publication
Researcher Affiliations
- Department of Veterinary Population Medicine, University of Minnesota College of Veterinary Medicine, St Paul, MN, USA. mccų@umn.edu
MeSH Terms
- Animals
- Breeding
- Genetic Predisposition to Disease
- Glycogen Storage Disease / epidemiology
- Glycogen Storage Disease / genetics
- Glycogen Storage Disease / veterinary
- Glycogen Synthase / genetics
- Glycogen Synthase / metabolism
- Horse Diseases / genetics
- Horses
- Muscle, Skeletal / pathology
- Mutation
- Polysaccharides / metabolism
Citations
This article has been cited 15 times.- Valberg SJ, Schultz AE, Finno CJ, Bellone RR, Hughes SS. Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse-related breeds with the MYH1(E321G) mutation. J Vet Intern Med 2022 May;36(3):1152-1159.
- Ryan A, Gurney M, Steinbacher R. Suspected vagal reflex and hyperkalaemia inducing asystole in an anaesthetised horse. Equine Vet J 2022 Sep;54(5):927-933.
- Laforêt P, Oldfors A, Malfatti E, Vissing J. 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands. Neuromuscul Disord 2021 May;31(5):466-477.
- 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.
- Beeson SK, Mickelson JR, McCue ME. Exploration of fine-scale recombination rate variation in the domestic horse. Genome Res 2019 Oct;29(10):1744-1752.
- Williams ZJ, Bertels M, Valberg SJ. Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy. PLoS One 2018;13(9):e0203467.
- Tosi I, Art T, Cassart D, Farnir F, Ceusters J, Serteyn D, Lemieux H, Votion DM. Altered mitochondrial oxidative phosphorylation capacity in horses suffering from polysaccharide storage myopathy. J Bioenerg Biomembr 2018 Oct;50(5):379-390.
- Kim HA, Kim MC, Kim NY, Ryu DY, Lee HS, Kim Y. Integrated analysis of microRNA and mRNA expressions in peripheral blood leukocytes of Warmblood horses before and after exercise. J Vet Sci 2018 Jan 31;19(1):99-106.
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- 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.
- Naylor RJ, Livesey L, Schumacher J, Henke N, Massey C, Brock KV, Fernandez-Fuente M, Piercy RJ. Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1). PLoS One 2012;7(7):e42317.
- Roach PJ, Depaoli-Roach AA, Hurley TD, Tagliabracci VS. Glycogen and its metabolism: some new developments and old themes. Biochem J 2012 Feb 1;441(3):763-87.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Isgren CM, Upjohn MM, Fernandez-Fuente M, Massey C, Pollott G, Verheyen KL, Piercy RJ. Epidemiology of exertional rhabdomyolysis susceptibility in standardbred horses reveals associated risk factors and underlying enhanced performance. PLoS One 2010 Jul 14;5(7):e11594.
- Echigoya Y, Okabe H, Itou T, Endo H, Sakai T. Molecular characterization of glycogen synthase 1 and its tissue expression profile with type II hexokinase and muscle-type phosphofructokinase in horses. Mol Biol Rep 2011 Jan;38(1):461-9.
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