Prevalência da mutação causadora da paralisia periódica hipercalêmica em equinos da raça Quarto de Milha no Brasil

Delfiol, Diego José Zanzarini; Filho, José Paes de Oliveira; Battazza, Alexandre; Souza, Carla Pinheiro de; Badial, Peres Ramos; Araújo, João Pessoa; Borges, Alexandre Secorun

doi:10.1590/0103-8478cr20141256

Cited by 26 publications

(6 citation statements)

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“…As observed for MYH1 , the frequencies of alleles involved in other genetic diseases, that is, PSSM1, 4 HYPP, 10 GBED 13 and hereditary equine regional dermal asthenia (HERDA), 14 in Brazilian QHs were also similar to those found in American QHs 3 . The results obtained in this study and in previous studies 4,10,11,15 suggest that the similarity in the allele frequencies of these mutations may be because Brazilian QHs are often closely related to American QHs 14 and reining is a popular discipline in both countries.…”

Section: Discussionmentioning

confidence: 59%

“…The allele frequency of the E321G MYH1 variant in QHs in Brazil was estimated to be 0.074, which is twice as high as the frequency observed in 146 randomly selected QHs in the USA and Canada (0.034) and is more similar to that observed in elite performance QHs in the USA (0.049) 9 . As observed for MYH1 , the frequencies of alleles involved in other genetic diseases, that is, PSSM1, 4 HYPP, 10 GBED 13 and hereditary equine regional dermal asthenia (HERDA), 14 in Brazilian QHs were also similar to those found in American QHs 3 . The results obtained in this study and in previous studies 4,10,11,15 suggest that the similarity in the allele frequencies of these mutations may be because Brazilian QHs are often closely related to American QHs 14 and reining is a popular discipline in both countries.…”

Section: Discussionmentioning

confidence: 60%

“…The foals (foals 1 and 2) and their healthy sires/dams (horses 3‐6) were genotyped for MYHM following the protocols detailed below. In addition, these horses were also genotyped for PSSM1, MH, HYPP and GBED following previously described protocols 4,10,11 . After the death of foal 1, histopathological analysis of semimembranosus, semitendinosus and cardiac muscles was performed with formalin‐fixed paraffin‐embedded tissue stained with haematoxylin and eosin, periodic acid Schiff (PAS) and amylase‐PAS.…”

Section: Methodsmentioning

confidence: 99%

“…For validation, the genotypes were determined in 10 DNA samples from MYH1 heterozygotes and 20 wild‐type horses at the Veterinary Genetics Laboratory at the University of California‐Davis/USA (VGL‐UCDavis). The genotypes of PSSM1, HYPP, GBED and MH had previously been analysed 4,10,11 and were collated for this subset of horses.…”

Section: Methodsmentioning

confidence: 99%

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Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses

Albuquerque

Delfiol

Andrade

et al. 2021

Equine Veterinary Journal

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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.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 60%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses

Albuquerque

Delfiol

Andrade

et al. 2021

Equine Veterinary Journal

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“…Other studies on prevalence of different diseases with hereditary patterns that affect horses, but no related to hemostasis alterations, have been performed in Brazil: Hereditary equine regional dermal asthenia [17], Hyperkalemic periodic paralysis [18], Type 1 polysaccharide storage myopathy mutation [18], Malignant hyperthermia [19], Glycogen branching enzyme deficiency [20], and Warmblood fragile foal syndrome [21]. Many of these studies demonstrated similar results as found in other countries, such as the USA [16,22].…”

Section: Resultsmentioning

confidence: 99%

Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil

Leite

Ferreira

Araújo

et al. 2019

Animals

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Simple SummaryHereditary bleeding disorders occur in different species due to mutations in genes coding specific hemostatic proteins leading to alterations in their synthesis, or to the production of non-functional proteins which leads to impairment of hemostasis. Some of these disorders have been described in horses, i.e., Von Willebrand disease (VWD), hemophilia A, and Glanzmann’s thrombasthenia (GT). GT is an inherited disease characterized by hemorrhage and has been described in different species including horses of varied breeds (Thoroughbred, Standardbred, Oldenburg, Peruvian Paso, and Quarter Horse). There are two different mutations described in horses a single guanine to cytosine substitution (CGG for CCG) and a 10 base pair deletion in the ITGA2B gene.AbstractGlanzmann’s thrombasthenia (GT) is an autosomal recessive inherited disorder characterized by changes in platelet aggregation, leading to hemorrhage and epistaxis. To date, two independent mutations have been described in horses and associated with this disorder, a point mutation (c.122G > C) and a 10-base-pair deletion (g.1456_1466del) in the Integrin subunit alpha2β gene (ITGA2B) of horses of different breeds (Quarter Horse, Thoroughbred, Oldenburg, and Peruvian Paso). ITGA2B codifies the αIIb subunit of the αIIbβ3 integrin, also termed platelet fibrinogen receptor. Horses with GT have been diagnosed in the USA, Canada, Japan, and Australia. However, there are no studies on the prevalence of GT in horses. The aim of this study is to evaluate the prevalence of the mutations responsible for GT in horses in Brazil. A total of 1053 DNA samples of clinically healthy Quarter Horse (n = 679) and Warmblood horses (n = 374) were used. DNA fragments were amplified by PCR and sequenced. The genotype of each animal was analyzed and compared to the nucleotide sequence of the ITGA2B gene found on GenBankTM. There were no carriers in the analyzed samples, that is, all animals tested were wild type. Therefore, under the conditions in which this study was carried out, it can be inferred that GT seems to be extremely rare in the population of Quarter Horses and Warmbloods in Brazil, although it is not possible to affirm that there are no horses carrying mutated alleles in Brazil.

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