Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper

Detalhes bibliográficos
Autor(a) principal: Andrade, Danilo Giorgi A. [UNESP]
Data de Publicação: 2014
Outros Autores: Pavan, Leonardo Fabrício [UNESP], Amorim, Rogerio Martins [UNESP], Chiacchio, Simone Biagio [UNESP], Laufer-amorim, Renée [UNESP], Goncalves, Roberto Calderon [UNESP], Borges, Alexandre Secorun [UNESP], Oliveira-filho, José P. [UNESP]
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1590/S0100-736X2014000500010
http://hdl.handle.net/11449/109472
Resumo: Dermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.
id UNSP_317abe6d8c26f0faaa6af93a3eeafa15
oai_identifier_str oai:repositorio.unesp.br:11449/109472
network_acronym_str UNSP
network_name_str Repositório Institucional da UNESP
repository_id_str 2946
spelling Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White DorperClinical, histopathological and molecular aspects of the dermatosparaxis in White Dorper sheepDermatopatiasdermatosparaxiacolágenomutação c.421G>TovinosDermatopathiasdermatosparaxiscollagenc.421G>T mutationsheepDermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.Dermatosparaxia em animais é uma doença autossômica recessiva do tecido conjuntivo caracterizada por fragilidade e hiperextensibilidade cutânea. A doença em ovinos White Dorper é provocada pela mutação c.421G>T no gene ADAMmetalopeptidase com trombospondina tipo 1 motif, 2 (ADAMTS2). O objetivo deste estudo foi descrever os achados clínicos, moleculares e histopatológicos da dermatosparaxia em ovinos White Dorper de um rebanho localizado no Centro-Oeste Paulista. O rebanho era composto por nove animais, sendo um reprodutor, quatro matrizes e seus respectivos borregos. Dos nove animais examinados, dois apresentavam sinais clínicos compatíveis com dermatosparaxia. O exame histopatológico de amostras cutâneas das lesões destes dois animais revelou também achados compatíveis com dermatosparaxia, sendo caracterizados por epiderme e anexos cutâneos preservados e sem características atípicas; colágeno displásico arranjado em feixes pequenos, fragmentados e com focos de degeneração, anexos cutâneos proeminentes e na região da derme foco hemorrágico intenso associado a moderado infiltrado neutrofílico na derme profunda. Com o objetivo de realizar o diagnóstico molecular da enfermidade, uma PCR foi padronizada utilizando primers específicos desenhados para amplificar a região do gene ADAMTS2 que continha a mutação c.421G>T e o DNA obtido de amostras de sangue de todos os animais do rebanho. O sequenciamento direto dos produtos da PCR, comprovou que os dois animais clinicamente afetados possuíam a mutação responsável pela dermatosparaxia. A metodologia descrita neste estudo possibilitou o diagnóstico definitivo da doença. Segundo a literatura consultada, esta é a primeira vez que a dermatosparaxia é descrita em ovinos White Dorper no Brasil. A metodologia aqui descrita poderá ser empregada em estudos futuros que avaliem a prevalência desta mutação no Brasil, possibilitando a adoção de medidas que previnam a disseminação dessa mutação no rebanho brasileiro de ovinos White Dorper.Universidade Estadual Paulista Faculdade de Medicina Veterinária e Zootecnia Departamento de Clínica VeterináriaUniversidade Estadual Paulista Faculdade de Medicina Veterinária e Zootecnia Departamento de Clínica VeterináriaColégio Brasileiro de Patologia Animal - CBPAUniversidade Estadual Paulista (Unesp)Andrade, Danilo Giorgi A. [UNESP]Pavan, Leonardo Fabrício [UNESP]Amorim, Rogerio Martins [UNESP]Chiacchio, Simone Biagio [UNESP]Laufer-amorim, Renée [UNESP]Goncalves, Roberto Calderon [UNESP]Borges, Alexandre Secorun [UNESP]Oliveira-filho, José P. [UNESP]2014-09-30T18:18:22Z2014-09-30T18:18:22Z2014-05-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article443-448application/pdfhttp://dx.doi.org/10.1590/S0100-736X2014000500010Pesquisa Veterinária Brasileira. Colégio Brasileiro de Patologia Animal - CBPA, v. 34, n. 5, p. 443-448, 2014.0100-736Xhttp://hdl.handle.net/11449/10947210.1590/S0100-736X2014000500010S0100-736X2014000500010S0100-736X2014000500010.pdf9259769491807020335320162152943179214211612759929643433706163946SciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporPesquisa Veterinária Brasileira0.385info:eu-repo/semantics/openAccess2023-10-10T06:09:42Zoai:repositorio.unesp.br:11449/109472Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-10-10T06:09:42Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
Clinical, histopathological and molecular aspects of the dermatosparaxis in White Dorper sheep
title Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
spellingShingle Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
Andrade, Danilo Giorgi A. [UNESP]
Dermatopatias
dermatosparaxia
colágeno
mutação c.421G>T
ovinos
Dermatopathias
dermatosparaxis
collagen
c.421G>T mutation
sheep
title_short Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
title_full Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
title_fullStr Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
title_full_unstemmed Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
title_sort Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper
author Andrade, Danilo Giorgi A. [UNESP]
author_facet Andrade, Danilo Giorgi A. [UNESP]
Pavan, Leonardo Fabrício [UNESP]
Amorim, Rogerio Martins [UNESP]
Chiacchio, Simone Biagio [UNESP]
Laufer-amorim, Renée [UNESP]
Goncalves, Roberto Calderon [UNESP]
Borges, Alexandre Secorun [UNESP]
Oliveira-filho, José P. [UNESP]
author_role author
author2 Pavan, Leonardo Fabrício [UNESP]
Amorim, Rogerio Martins [UNESP]
Chiacchio, Simone Biagio [UNESP]
Laufer-amorim, Renée [UNESP]
Goncalves, Roberto Calderon [UNESP]
Borges, Alexandre Secorun [UNESP]
Oliveira-filho, José P. [UNESP]
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Andrade, Danilo Giorgi A. [UNESP]
Pavan, Leonardo Fabrício [UNESP]
Amorim, Rogerio Martins [UNESP]
Chiacchio, Simone Biagio [UNESP]
Laufer-amorim, Renée [UNESP]
Goncalves, Roberto Calderon [UNESP]
Borges, Alexandre Secorun [UNESP]
Oliveira-filho, José P. [UNESP]
dc.subject.por.fl_str_mv Dermatopatias
dermatosparaxia
colágeno
mutação c.421G>T
ovinos
Dermatopathias
dermatosparaxis
collagen
c.421G>T mutation
sheep
topic Dermatopatias
dermatosparaxia
colágeno
mutação c.421G>T
ovinos
Dermatopathias
dermatosparaxis
collagen
c.421G>T mutation
sheep
description Dermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.
publishDate 2014
dc.date.none.fl_str_mv 2014-09-30T18:18:22Z
2014-09-30T18:18:22Z
2014-05-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/S0100-736X2014000500010
Pesquisa Veterinária Brasileira. Colégio Brasileiro de Patologia Animal - CBPA, v. 34, n. 5, p. 443-448, 2014.
0100-736X
http://hdl.handle.net/11449/109472
10.1590/S0100-736X2014000500010
S0100-736X2014000500010
S0100-736X2014000500010.pdf
9259769491807020
3353201621529431
7921421161275992
9643433706163946
url http://dx.doi.org/10.1590/S0100-736X2014000500010
http://hdl.handle.net/11449/109472
identifier_str_mv Pesquisa Veterinária Brasileira. Colégio Brasileiro de Patologia Animal - CBPA, v. 34, n. 5, p. 443-448, 2014.
0100-736X
10.1590/S0100-736X2014000500010
S0100-736X2014000500010
S0100-736X2014000500010.pdf
9259769491807020
3353201621529431
7921421161275992
9643433706163946
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Pesquisa Veterinária Brasileira
0.385
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 443-448
application/pdf
dc.publisher.none.fl_str_mv Colégio Brasileiro de Patologia Animal - CBPA
publisher.none.fl_str_mv Colégio Brasileiro de Patologia Animal - CBPA
dc.source.none.fl_str_mv SciELO
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1799964514115911680