TGM1缺陷杰克罗素梗犬常染色体隐性鱼鳞病的皮肤屏障、表型和基因型特征以及对局部神经酰胺的反应。

IF 1.9 3区 农林科学 Q3 DERMATOLOGY
Veterinary dermatology Pub Date : 2024-12-01 Epub Date: 2024-08-08 DOI:10.1111/vde.13285
Elizabeth Mauldin, Charles Bradley, Margret Casal, Jason Meyer, Debra Crumrine, Sarah Kiener, Tosso Leeb, Peter M Elias
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引用次数: 0

摘要

背景:常染色体隐性遗传鱼鳞病会导致皮肤屏障功能受损的结构或生化变化:评估(1)一窝患有常染色体隐性先天性鱼鳞病(ARCI)的杰克罗素梗犬的表型和基因型;(2)有缺陷的皮肤屏障,并确定外用神经酰胺是否能调节皮肤屏障:一只健康的母犬和一窝杰克罗素梗幼犬(健康的公犬、患病的公犬和母犬)、一只患病的成年杰克罗素梗和一只无关的健康杰克罗素梗:通过对患病幼犬的检查,发现它们存在严重的粟粒化缺陷。随着表型的恶化,患病幼犬接受了为期 10 天的ω-0-甘油酰胺局部治疗。在实施人道安乐术之前,通过经表皮失水率(TEWL)、角膜测量法和 pH 值对患病犬的皮肤屏障进行了评估。还进行了基因组测试,并用光镜和电子显微镜对皮肤样本进行了分析:结果:受影响的幼犬均为 TGM1(转谷氨酰胺酶 1)基因 1980 bp LINE-1 插入的同基因携带者;未受影响的同窝幼犬和母犬均为杂合携带者。ARCI 幼犬体重不足,有严重的过度角化表型,行动不便。患病犬的 TEWL 明显较高。患病幼犬的皮肤 pH 值高于正常幼犬。用ω-0-甘油酰胺治疗皮肤后,pH值恢复正常,与同窝幼犬一致,TEWL也有所降低。电子显微镜显示粟粒状包膜明显衰减:结论和临床意义:TGM1缺陷型ARCI犬的皮肤屏障受损。局部治疗可部分修复屏障缺陷。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1-deficient Jack Russell Terriers and response to topical ceramide.

Background: Autosomal recessive ichthyosis leads to structural or biochemical changes that impair skin barrier function.

Hypothesis/objectives: To assess (1) the phenotype and genotype in a litter of Jack Russell Terriers with autosomal recessive congenital ichthyosis (ARCI), and (2) the defective skin barrier and determine if a topical ceramide can modulate the barrier.

Animals: A healthy dam and litter of Jack Russell Terrier puppies (healthy male, affected male and female), one affected adult Jack Russell Terrier and one unrelated healthy Jack Russell Terrier.

Materials and methods: A severe cornification defect was identified via examination of affected puppies. As the phenotype worsened, the affected puppies received a topical application of ω-0-acylceramide for 10 days. Before humane euthanasia, the skin barrier was evaluated via transepidermal water loss (TEWL), corneometry and pH in affected dogs. Genomic testing was performed, and skin samples were analysed by light and electron microscopy.

Results: Affected puppies were homozygous for the 1980 bp LINE-1 insertion in the TGM1 (transglutaminase 1) gene; the unaffected littermate and the dam were heterozygous carriers. ARCI puppies were underweight and had a severe hyperkeratotic phenotype that impaired mobility. TEWL was markedly higher in affected dogs. The cutaneous pH of affected puppies was higher than the normal littermate. Treatment of the skin with ω-0-acylceramide normalised the pH to match the littermate and decreased TEWL. Electron microscopy revealed marked attenuation of the cornified envelope.

Conclusions and clinical relevance: Dogs with TGM1-deficient ARCI have an impaired skin barrier. Topical therapy can partially repair the barrier defect.

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来源期刊
Veterinary dermatology
Veterinary dermatology 农林科学-兽医学
CiteScore
3.20
自引率
21.40%
发文量
92
审稿时长
12-24 weeks
期刊介绍: Veterinary Dermatology is a bi-monthly, peer-reviewed, international journal which publishes papers on all aspects of the skin of mammals, birds, reptiles, amphibians and fish. Scientific research papers, clinical case reports and reviews covering the following aspects of dermatology will be considered for publication: -Skin structure (anatomy, histology, ultrastructure) -Skin function (physiology, biochemistry, pharmacology, immunology, genetics) -Skin microbiology and parasitology -Dermatopathology -Pathogenesis, diagnosis and treatment of skin diseases -New disease entities
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