Estimation of the Allele Frequency of Type 1 Polysaccharide Storage Myopathy and Malignant Hyperthermia in Quarter Horses in Brazil

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dc.contributor.authorZanzarini Delfiol, Diego Jose
dc.contributor.authorOliveira-Filho, Jose Paes de [UNESP]
dc.contributor.authorBadial, Peres Ramos
dc.contributor.authorBattazza, Alexandre [UNESP]
dc.contributor.authorAraujo Junior, Joao Pessoa [UNESP]
dc.contributor.authorBorges, Alexandre Secorun [UNESP]
dc.contributor.institutionUniversidade Federal de Uberlândia (UFU)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionMississippi State Univ
dc.date.accessioned2019-10-04T12:31:01Z
dc.date.available2019-10-04T12:31:01Z
dc.date.issued2018-11-01
dc.description.abstractType 1 polysaccharide storage myopathy (PSSM1) and malignant hyperthermia (MH) are autosomal dominant genetic diseases caused by a point mutation in equine GYS1 and RYR1, respectively. Although the prevalence of PSSM1 and MH have been described in other countries as causes of myopathy in horses, there are no studies evaluating the allele frequency of those mutations in Brazil. The aim of the present study was to determine the allele frequency of the mutated alleles causing susceptibility for PSSM1 and MH mutations in Quarter Horses (QHs) in Brazil. Deoxyribonucleic acid was purified from blood samples of 741 QHs used in five competitive disciplines (i.e., barrel racing, cutting, halter, racing, and reining). The PCR was optimized to identify the mutations using primers designed from the sequence of equine GYS1 and RYR1. The allele frequencies and the prevalence of PSSM1 were 0.034 and 6.7%, respectively. The highest allele frequency for the GYS1 mutated gene was identified in halter horses (0.163), and the gene mutation was not observed in racing animals. The mutation in the RYR1 was not identified in any of the sampled horses. The PSSM1 allele frequency observed in the present study indicates the relevance of the disease in the differential diagnosis of myopathies in horses. In addition, the absence of the RYR1 causative mutation suggests little importance of MH as a genetic muscle disorder in the Brazilian QHs. (C) 2018 Elsevier Inc. All rights reserved.en
dc.description.affiliationUniv Fed Uberlandia, Sch Vet Med, Uberlandia, MG, Brazil
dc.description.affiliationUniv Estadual Paulista, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil
dc.description.affiliationMississippi State Univ, Coll Vet Med, Dept Pathobiol & Populat Med, Starkville, MS USA
dc.description.affiliationUniv Estadual Paulista, Inst Biosci, Dept Microbiol, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Inst Biosci, Dept Microbiol, Botucatu, SP, Brazil
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIdFAPESP: 11/23729-0
dc.format.extent38-41
dc.identifierhttp://dx.doi.org/10.1016/j.jevs.2018.06.015
dc.identifier.citationJournal Of Equine Veterinary Science. New York: Elsevier Science Inc, v. 70, p. 38-41, 2018.
dc.identifier.doi10.1016/j.jevs.2018.06.015
dc.identifier.issn0737-0806
dc.identifier.urihttp://hdl.handle.net/11449/184905
dc.identifier.wosWOS:000446575800007
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofJournal Of Equine Veterinary Science
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.subjectHorse
dc.subjectPSSM 1
dc.subjectGYS1 gene
dc.subjectRYR1 gene
dc.subjectMyopathy
dc.titleEstimation of the Allele Frequency of Type 1 Polysaccharide Storage Myopathy and Malignant Hyperthermia in Quarter Horses in Brazilen
dc.typeArtigo
dcterms.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dcterms.rightsHolderElsevier B.V.
unesp.author.lattes9643433706163946[6]
unesp.author.orcid0000-0001-9890-2640[2]
unesp.author.orcid0000-0001-6256-8089[6]

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