Dermatosparaxis in a Himalayan Cat: I. Biochemical Studies of Dermal Collagen

Counts, David F.; Byers, Peter H.; Holbrook, Karen A.; Hegreberg, Gerald Α.

doi:10.1111/1523-1747.ep12519991

Cited by 60 publications

(30 citation statements)

References 17 publications

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“…11 Also, a recessive mode of inheritance of the disease was described in one Himalayan cat. 2,3,19 The biochemical alterations of EDS are manifest clinically as fragility and hyperextensibility of cutaneous tissue. 19 In some cases, it is possible to detect microscopic abnormalities of collagen fibers, whose ultrastructural aspects have been described for feline cutaneous asthenia.…”

Section: Figmentioning

confidence: 99%

Collagen Dysplasia (Cutaneous Asthenia) in a Cat

Sequeira¹,

Rocha²,

Bandarra³

et al. 1999

Vet Pathol

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Abstract.Hereditary collagen dysplasias comprise a complex group of connective-tissue disorders that result in the reduced tensile strength of affected tissues. These processes are called cutaneous asthenia in the skin of dogs and cats. We report here the case of a crossbred male cat, aged 6 months, that presented with two skin wounds in the region of the right thorax and right iliac tuberosity. The skin of these regions and of the animal's dorsum was hyperextensible, smooth to the touch, and easily torn with minor trauma. Microscopic examination of skin samples revealed reduced dermal connective tissue consisting of shortened and fragmented collagen fibers. Normal fibers were intermingled with altered fibers. Ultrastructural changes in collagen fibers included disorientation of fibrils within the same bundle, marked spacing differences, and variation in the diameter of transverse sections. The fibrils maintained the transverse striations characteristic of normal collagen.

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Section: Figmentioning

confidence: 99%

Collagen Dysplasia (Cutaneous Asthenia) in a Cat

Sequeira¹,

Rocha²,

Bandarra³

et al. 1999

Vet Pathol

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“…SDS polyacrylamide gel electrophoresis of the soluble material which did not bind to DEAE-cellulose in peak 1 from the dwarf demonstrated the presence of type II collagen. Although growth plates from dwarf Malamutes were assessed for the presence of pro-collagen as described by Counts et al [29], no procollagen could be detected. Amino acid analysis of the material which did not bind to DEAE-cellulose in peak 1 indicated that the material was indeed type II collagen.…”

Section: Discussionmentioning

confidence: 99%

Studies of the intercellular matrix of growth plates from dwarf and homozygous nonaffected alaskan malamutes: Collagen and hexosamine

1980

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This study was performed to compare the extractability of dwarf growth plate collagen and hexosamine and that of homozygous nonaffected Malamutes and to measure the activity of three of the enzymes involved in the post-translational modifications of the collagen molecule. No significant differences were found in the activity of prolyl hydroxylase or lysyl oxidase in the dwarf growth plates. Lysyl hydroxylase activity in the dwarf was decreased to 22% and 33% that of the activity present in the homozygous nonaffected growth plates. Amino acid analysis of the collagen isolated from dwarf growth plates failed to reveal any decrease in hydroxylysine content. Growth plates were extracted with either 1 M sodium chloride or 4 M guanidine hydrochloride. The extracts were applied to a DEAE-cellulose column. Amino acid analyses of the material which did not bind to DEAE revealed a slight decrease in the amount of guanidine-extractable hydroxyproline in the dwarf but a 60-fold increase in the amount of salt-extractable hydroxyproline in the dwarf growth plates. Material which eluted with 1 M sodium choloride was analyzed for hexosamine. There was a 10-fold increase in the amount of salt-extractable hexosamine present in the dwarf growth plates, whereas no significant differences were observed in the guanidine-extracted material. Hexosamine analysis of the growth plates revealed a significant increase in the total amount of hexosamine present in the dwarf growth plates. SDS-polyacrylamide gels of the material which did not bind to DEAE as well as the pepsin digested, 0.9M sodium chloride precipitated collagen demonstrated the presence of only type II collagen.

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“…Estas características cutâneas impedem que o animal seja mantido no sistema de criação, sendo descartado ou tirado de suas atividades habituais. Denominada em humanos como síndrome Ehler-Danlos tipo VIIC (Colige et al 1999) a dermatosparaxia já foi descrita em gatos (Counts et al 1980), cães (Panciello et al 2003), cavalos (Badial et al 2013), bovinos (Kawaguchi et al 1988, Colige et al 1999) e em algumas raças de ovinos (Fjolstad & Helle 1974, Ramshaw et al 1983, van Weeren-Keverling & Koeman 1986, van Halderen & Green 1988, Sucupira et al 2009, Vaatstra et al 2011, Zhou et al 2012. A dermatosparaxia em ovinos da raça White Dorper já foi descrita na África do Sul (van Halderen & Green 1988), Austrália (Aggs 2007), Espanha (Sucupira et al 2009), Nova Zelândia (Vaatstra et al 2011, Zhou et al 2012) e Estados Unidos (Grant & Patton 2012).…”

Section: Introductionunclassified

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

et al. 2014

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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.

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Dermatosparaxis in a Himalayan Cat: I. Biochemical Studies of Dermal Collagen

Cited by 60 publications

References 17 publications

Collagen Dysplasia (Cutaneous Asthenia) in a Cat

Collagen Dysplasia (Cutaneous Asthenia) in a Cat

Studies of the intercellular matrix of growth plates from dwarf and homozygous nonaffected alaskan malamutes: Collagen and hexosamine

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

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