Dog Duchenne muscular dystrophy characterization

IF 3.9 3区农林科学 Q1 VETERINARY SCIENCES

Lab Animal Pub Date : 2025-07-30 DOI:10.1038/s41684-025-01595-4

Jorge Ferreira

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Abstract

Duchenne muscular dystrophy (DMD) is a severe, inherited muscle-wasting disorder caused by mutations in the DMD gene, leading to dystrophin deficiency and downstream pathological cascades, including calcium overload, muscle necrosis, fibrosis, and progressive cardiac and skeletal muscle dysfunction. While mouse models are commonly used, they fail to fully model the human disease. The canine DMD model offers a more accurate representation of the disease, exhibiting progressive muscle weakness, respiratory decline, and cardiomyopathy. In a study in Disease Models & Mechanisms, researchers addressed an important technical limitation by developing a custom antibody specific to canine Dwarf open reading frame (DWORF), a micropeptide implicated in calcium handling and muscle function. Using this tool, they found that DWORF expression—previously demonstrated to have a protective role in muscular wasting diseases—is reduced in the skeletal and cardiac muscles of adult DMD dogs. This is the first characterization of DWORF protein in a large-animal model of DMD, providing groundwork for preclinical evaluation of DWORF-targeted therapies in a system that more accurately reflects human DMD pathology.

Original reference: Gibson, A.M. et al. Dis. Model & Mech. 18, dmm052285 (2025)

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狗杜氏肌营养不良的特征

杜氏肌营养不良症（DMD）是一种由DMD基因突变引起的严重的遗传性肌肉萎缩疾病，可导致肌营养不良蛋白缺乏和下游病理性级联反应，包括钙超载、肌肉坏死、纤维化以及进行性心脏和骨骼肌功能障碍。虽然通常使用小鼠模型，但它们不能完全模拟人类疾病。犬DMD模型提供了更准确的疾病表征，表现为进行性肌肉无力，呼吸衰退和心肌病。在《疾病模型》的一项研究中；机制方面，研究人员通过开发一种针对犬类矮人开放阅读框（DWORF）的定制抗体，解决了一个重要的技术限制，DWORF是一种涉及钙处理和肌肉功能的微肽。使用这个工具，他们发现DWORF的表达在成年DMD狗的骨骼肌和心肌中减少了，而DWORF先前被证明在肌肉萎缩疾病中具有保护作用。这是首次在DMD大型动物模型中表征DWORF蛋白，为在更准确反映人类DMD病理的系统中进行DWORF靶向治疗的临床前评估奠定了基础。原始文献：Gibson， A.M.等。d .模型&；18号机甲，dmm052285 （2025）

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来源期刊

Lab Animal 农林科学-兽医学

CiteScore

0.60

自引率

2.90%

发文量

181

审稿时长

>36 weeks

期刊介绍： LabAnimal is a Nature Research journal dedicated to in vivo science and technology that improves our basic understanding and use of model organisms of human health and disease. In addition to basic research, methods and technologies, LabAnimal also covers important news, business and regulatory matters that impact the development and application of model organisms for preclinical research. LabAnimal's focus is on innovative in vivo methods, research and technology covering a wide range of model organisms. Our broad scope ensures that the work we publish reaches the widest possible audience. LabAnimal provides a rigorous and fair peer review of manuscripts, high standards for copyediting and production, and efficient publication.