Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses

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dc.contributor.authorde Albuquerque, Ana L. [UNESP]
dc.contributor.authorZanzarini Delfiol, Diego J.
dc.contributor.authorAndrade, Danilo G. A. [UNESP]
dc.contributor.authorAlbertino, Lukas G. [UNESP]
dc.contributor.authorSonne, Luciana
dc.contributor.authorBorges, Alexandre S. [UNESP]
dc.contributor.authorValberg, Stephanie J.
dc.contributor.authorFinno, Carrie J.
dc.contributor.authorOliveira-Filho, Jose P. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionUniversidade Federal de Uberlândia (UFU)
dc.contributor.institutionFederal University of Rio Grande Sul
dc.contributor.institutionMichigan State University
dc.contributor.institutionUniversity of California-Davis
dc.date.accessioned2022-04-29T08:35:46Z
dc.date.available2022-04-29T08:35:46Z
dc.date.issued2021-01-01
dc.description.abstractBackground: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. Objectives: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. Study design: Cross sectional. Methods: To estimate the allele frequency of the E321G MYH1 variant in Brazilian QHs, 299 DNA samples from QHs used in different disciplines (reining, barrel racing, halter, cutting and racing) were analysed. DNA fragments containing the region with the mutation were amplified by PCR and used for direct genomic sequencing. Results: Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild-type allele (N/N), implying an allele frequency of 0.074. Reining horses had a significantly higher prevalence of heterozygosity than horses in other disciplines (P =.008). Main limitations: The DNA samples were collected from 2010 to 2014. As only registered QHs were evaluated, the results may not reflect the actual incidence in the general population of Brazilian QHs. Conclusions: The reported cases of MYHM and the high prevalence of the MYH1 mutation found in the assessed Brazilian QH population, particularly in reining QHs, suggests that MYHM should be included in genetic screening. Reasonable control measures are important to prevent an increase in the incidence of MYHM in QHs in Brazil.en
dc.description.affiliationDepartment of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (UNESP)
dc.description.affiliationSchool of Veterinary Medicine Universidade Federal de Uberlândia
dc.description.affiliationSector of Veterinary Pathology Veterinary Faculty Federal University of Rio Grande Sul
dc.description.affiliationDepartment of Large Animal Clinical Sciences College of Veterinary Medicine Michigan State University
dc.description.affiliationDepartment of Population Health and Reproduction School of Veterinary Medicine University of California-Davis
dc.description.affiliationUnespDepartment of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (UNESP)
dc.identifierhttp://dx.doi.org/10.1111/evj.13521
dc.identifier.citationEquine Veterinary Journal.
dc.identifier.doi10.1111/evj.13521
dc.identifier.issn2042-3306
dc.identifier.issn0425-1644
dc.identifier.scopus2-s2.0-85117936303
dc.identifier.urihttp://hdl.handle.net/11449/229791
dc.language.isoeng
dc.relation.ispartofEquine Veterinary Journal
dc.sourceScopus
dc.subjecthorse
dc.subjectmuscle disorders
dc.subjectMYH1
dc.subjectmyositis
dc.subjectQuarter Horses
dc.titlePrevalence of the E321G MYH1 variant in Brazilian Quarter Horsesen
dc.typeArtigo
unesp.author.orcid0000-0001-8183-9876[1]
unesp.author.orcid0000-0003-3068-061X[2]
unesp.author.orcid0000-0003-0305-4154[3]
unesp.author.orcid0000-0002-3672-4081[4]
unesp.author.orcid0000-0003-3101-8134[5]
unesp.author.orcid0000-0002-5707-7565[6]
unesp.author.orcid0000-0001-5978-7010[7]
unesp.author.orcid0000-0001-5924-0234[8]
unesp.author.orcid0000-0001-9890-2640[9]

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Artigos - Clínica Veterinária - FMVZ