Frequência alélica de enfermidades genéticas musculares em equinos quarto de milha de vaquejada
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Data
2024-02-02
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Universidade Estadual Paulista (Unesp)
Resumo
Quarto de Milha (QM) é uma das principais raças de atletas do Brasil, participando de 22 modalidades. A vaquejada está entre as modalidades que mais cresceram nos últimos anos. O QM pode ter seu desempenho afetado por distúrbios genéticos musculares, dentre elas podemos destacar paralisia periódica hipercalêmica (HYPP), hipertermia maligna (MH), miopatia por acúmulo de polissacarídeo tipo 1 (PSSM1), e miopatia da cadeia pesada de miosina (MYHM). Considerando que a frequência alélica (FA) dessas variantes é desconhecida no QM de vaquejada, este estudo teve como objetivo avaliar as FAs em cavalos registrados na ABQM com histórico de competidor de vaquejada. Amostras de pelo foram coletadas aleatoriamente de 129 QM de propriedades localizadas na região Nordeste do Brasil e posterior realizada a purificação de DNA e sequenciamento de Sanger para todas as quatro variantes. Dentre as variantes que foram encontradas no QM de vaquejada, somente foram detectadas em heterozigose. A variante do gene MYH1 foi a que mais prevaleceu 8% (10/122), seguido por GYS1 em três (2%) dos 129 animais, e por fim, a SCN4A, com 0,8% (1/126) animais. A variante RYR1 (MH) não foi detectada nos animais testados. O coeficiente de endogamia (F) foi avaliado em 81 QM (81/129), 55 eram endogâmicos e o F médio entre eles foi de 0,029 (2,9%). Conclui-se que as variantes MYHM, PSSM1 e HyPP estão presentes no QM brasileiro de vaquejada, sendo importante seu diagnóstico prévio, visto sua transmissão hereditária, afim de evitar a reprodução desses animais.
Quarter horses (QH), one of the main athlete breeds in Brazil, participating in 22 disciplines. Vaquejada (bull-catching) is among the disciplines that has grown the most in recent years. The QH can have their performance affected by muscular genetic disorders, such as hyperkalemic periodic paralysis (HYPP), malignant hyperthermia (MH), polysaccharide storage myopathy type 1 (PSSM1), and myosin-heavy chain myopathy (MYHM). Vaquejada is a significant Brazilian equine discipline that primarily involves QH. Considering that these variants allele frequency (AF) is unknown in vaquejada QH, this study aimed to evaluate the AFs in registered ABQM horses with vaquejada history. Hair samples were collected randomly from 129 QH from properties located in Northeast region of Brazil and DNA purification and Sanger sequencing for all four variants were performed. From the 81 animals assessed (81/129 animals), 55 were inbred and the average inbreeding coefficient (F) among them was 0.029 (2.9%). The average F estimated for this population was 0.003 or 0.3% (minimum: different from zero; maximum: 0.51). These variants were exclusively observed in heterozygosity. The MYHM variant exhibited the highest prevalence at 8% (AF = 0.04 ±0.01), followed by PSSM1 (2%, AF = 0.01 ±0.01), and the HYPP variant (0.8%, AF = 0.004 ±0.01). In conclusion, the variants MYHM, PSSM1, and HyPP are present in Brazilian vaquejada QH, and their previous diagnosis is important, since their hereditary transmission, to avoid indiscriminate reproduction of the animals.
Quarter horses (QH), one of the main athlete breeds in Brazil, participating in 22 disciplines. Vaquejada (bull-catching) is among the disciplines that has grown the most in recent years. The QH can have their performance affected by muscular genetic disorders, such as hyperkalemic periodic paralysis (HYPP), malignant hyperthermia (MH), polysaccharide storage myopathy type 1 (PSSM1), and myosin-heavy chain myopathy (MYHM). Vaquejada is a significant Brazilian equine discipline that primarily involves QH. Considering that these variants allele frequency (AF) is unknown in vaquejada QH, this study aimed to evaluate the AFs in registered ABQM horses with vaquejada history. Hair samples were collected randomly from 129 QH from properties located in Northeast region of Brazil and DNA purification and Sanger sequencing for all four variants were performed. From the 81 animals assessed (81/129 animals), 55 were inbred and the average inbreeding coefficient (F) among them was 0.029 (2.9%). The average F estimated for this population was 0.003 or 0.3% (minimum: different from zero; maximum: 0.51). These variants were exclusively observed in heterozygosity. The MYHM variant exhibited the highest prevalence at 8% (AF = 0.04 ±0.01), followed by PSSM1 (2%, AF = 0.01 ±0.01), and the HYPP variant (0.8%, AF = 0.004 ±0.01). In conclusion, the variants MYHM, PSSM1, and HyPP are present in Brazilian vaquejada QH, and their previous diagnosis is important, since their hereditary transmission, to avoid indiscriminate reproduction of the animals.
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Palavras-chave
MYHM, PSSM1, HyPP, MH, Miopatia, MYHM, PSSM1, MH, Myopathy, HyPP
Como citar
SPERANDIO, Lídia Maria Santos. Frequência alélica de enfermidades genéticas musculares em equinos quarto de milha de vaquejada. Orientador(a): José Paes de Oliveira Filho. 2024. Dissertação (Medicina Veterinária) – Faculdade de Medicina Veterinária e Zootecnia, Universidade Estadual Paulista (Unesp), Botucatu, 2024.