Frequência alélica do polimorfismo de nucleotídeo único c.2032g>a no gene plod1, responsável pela síndrome da fragilidade cutânea equina
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Data
2018-07-11
Autores
Dias, Natalia Moraes
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Universidade Estadual Paulista (Unesp)
Resumo
A síndrome da fragilidade cutânea equina, conhecida como warmblood fragile foal syndrome (WFFS), é uma enfermidade do tecido conjuntivo de caráter autossômico recessivo e é caracterizada clinicamente por lesões cutâneas e mucosa da cavidade oral, articulações hiperextensíveis e abortamento. Tais características são incompatíveis com o desenvolvimento dos animais afetados. O polimorfismo de nucleotídeo único (SNP) c.2032G>A no gene PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) em homozigose é responsável pela enfermidade em equinos de raças com aptidão para esportes equestres olímpicos. Existe apenas um caso publicado de um potro afetado com a confirmação da mutação, na Suíça, e apenas dois estudos de prevalência do SNP causador da doença, na Alemanha e nos Estados Unidos. Casos descritos com sinais clínicos compatíveis com a enfermidade e descritos antes da mutação ser descoberta estão presentes na literatura. Atualmente as associações de equinos na Europa tem dado grande atenção para esta enfermidade em equinos warmblood. A escassez de estudos e de informações sobre a existência da enfermidade no Brasil e no mundo leva-nos a acreditar que a mesma possa ser subdiagnosticada em nosso e nos outros países. O objetivo desse estudo foi estimar a frequência alélica do SNP c.2032G>A no gene PLOD1 em equinos da raça BH no Brasil, utilizando a reação em cadeia de polimerase e o sequenciamento direto da região do SNP como metodologia diagnóstica. Foram coletadas amostras de sangue e de bulbo piloso de 374 animais para extração de DNA, posterior amplificação da região desejada e, por fim, sequenciamento gênico. Nesse estudo, encontrou-se frequência alélica de 5,48%, inferindo que é necessária maior atenção por parte dos criadores para prevenir a propagação da doença nos animais.
Warmblood fragile foal syndrome (WFFS), is a connective tissue disease that presents an autosomal recessive character and is clinically characterized by cutaneous lesions, lesions in the gums and mucosa of the oral cavity, hyperextensible joints and abortions. Such characteristics are incompatible with the development of the affected animals. The single nucleotide polymorphism (SNP) c.2032G> A in the PLOD1 gene (procollagen-lysine, 2-oxoglutarate 5- dioxygenase 1) in homozygosis is responsible for the disease. There is only one report, describing an affected foal and the mutation in Switzerland and there are two studies of prevalence of the causative SNP of the disease (one in Germany and the other in the United States). Cases report presenting clinical signs compatible with the disease and described before the mutation was discovered are present in the literature. Currently the equine associations in Europe are giving great attention to this disease in warmblood horses. The scarcity of studies and information about the existence of the disease in Brazil and in the world leads us to believe that it can be underdiagnosed in our and in other countries. The objective of this study was to estimate the allelic frequency of c.2032G>A SNP in the PLOD1 gene in Brazilian Sport Horses in Brazil, using the polymerase chain reaction and the direct sequencing of the SNP region as a diagnostic tool. Blood and hair bulb samples were collected from 374 animals for DNA extraction, subsequent amplification of the desired region and, finally, Sanger sequencing. In this study, the allelic frequency was 5.48%, what infers that more attention is needed from the breeders and, also, control measures to prevent the spread of the disease in Brazilian animals must be adopted.
Warmblood fragile foal syndrome (WFFS), is a connective tissue disease that presents an autosomal recessive character and is clinically characterized by cutaneous lesions, lesions in the gums and mucosa of the oral cavity, hyperextensible joints and abortions. Such characteristics are incompatible with the development of the affected animals. The single nucleotide polymorphism (SNP) c.2032G> A in the PLOD1 gene (procollagen-lysine, 2-oxoglutarate 5- dioxygenase 1) in homozygosis is responsible for the disease. There is only one report, describing an affected foal and the mutation in Switzerland and there are two studies of prevalence of the causative SNP of the disease (one in Germany and the other in the United States). Cases report presenting clinical signs compatible with the disease and described before the mutation was discovered are present in the literature. Currently the equine associations in Europe are giving great attention to this disease in warmblood horses. The scarcity of studies and information about the existence of the disease in Brazil and in the world leads us to believe that it can be underdiagnosed in our and in other countries. The objective of this study was to estimate the allelic frequency of c.2032G>A SNP in the PLOD1 gene in Brazilian Sport Horses in Brazil, using the polymerase chain reaction and the direct sequencing of the SNP region as a diagnostic tool. Blood and hair bulb samples were collected from 374 animals for DNA extraction, subsequent amplification of the desired region and, finally, Sanger sequencing. In this study, the allelic frequency was 5.48%, what infers that more attention is needed from the breeders and, also, control measures to prevent the spread of the disease in Brazilian animals must be adopted.
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abortamento, colágeno, tecido conectivo, mutação, gene PLOD1, abortion, collagen, connective tissue, mutation, PLOD1 gene