Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses

Ana L. de Albuquerque, Diego J. Zanzarini Delfiol, Danilo G.A. Andrade, Lukas G. Albertino, Luciana Sonne, Alexandre S. Borges, Stephanie J. Valberg, Carrie J. Finno, Jose P. Oliveira-Filho

Research output: Contribution to journalArticlepeer-review


Background: 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.

Original languageEnglish (US)
JournalEquine Veterinary Journal
StateAccepted/In press - 2021


  • horse
  • muscle disorders
  • MYH1
  • myositis
  • Quarter Horses

ASJC Scopus subject areas

  • Equine


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