Dipartimento di Scienze Veterinarie, Università di Pisa, Viale delle Piagge, Italia.
Dipartimento di Neuroscienze, Biomedicina e Movimento, Università di Verona, Verona, Italia.
Top Companion Anim Med. 2021 Mar;42:100500. doi: 10.1016/j.tcam.2020.100500. Epub 2020 Nov 26.
Muscular dystrophies in dogs and cats represent a heterogeneous group of inherited, sometimes congenital, but infrequently diagnosed, progressive neuromuscular disorders. A correct identification and characterization of canine and feline muscular dystrophies could increase diagnostic and treatment strategies for veterinary neurologists and could identify useful animal models for the study of human dystrophies. However, in dogs and cats, diagnosis of muscular dystrophies is challenging due to a nonspecific clinical phenotype and pathological lesions, thus is most likely underestimated. We performed immunofluorescence and Western blot techniques using a wide panel of antibodies against proteins involved in human dystrophies (dystrophin mid-rod and carboxyterminal domain, α, β, γ, and δ-sarcoglycan, α-dystroglycan, caveolin-3, emerin, merosin, dysferlin, calpain-3, spectrin epitopes), on 9 canine and 3 feline muscle biopsies characterized by myopathic changes. Dystrophin deficiency was detected in 3 dogs and 2 novel canine muscular dystrophies have been identified, characterized by deficiency of caveolin-3 and calpain-3, respectively. In 2 cats, deficiency of β-SG and carboxyterminal domain of dystrophin in all muscle fibers has been detected. Performing immunofluorescence and Western blot analyses with a wider panel of antibodies allowed a correct identification of muscular dystrophies in dogs and cats and provides a direction for subsequent targeted genetic testing.
犬猫肌肉疾病代表一组遗传的异质性疾病,有时为先天性疾病,但很少被诊断,是进行性神经肌肉疾病。犬猫肌肉疾病的正确识别和特征描述可以增加兽医神经学家的诊断和治疗策略,并可以确定用于人类肌肉疾病研究的有用动物模型。然而,在犬猫中,由于非特异性临床表型和病理学病变,肌肉疾病的诊断具有挑战性,因此很可能被低估。我们使用针对人类肌肉疾病相关蛋白(抗肌萎缩蛋白中间杆和羧基末端结构域、α、β、γ和δ-肌聚糖、α-肌营养不良蛋白、钙网蛋白-3、emerin、merosin、dysferlin、钙蛋白酶-3、血影蛋白表位)的广泛抗体面板进行了免疫荧光和 Western blot 技术,对 9 例犬和 3 例具有肌病变化的猫进行了研究。在 3 只狗中检测到抗肌萎缩蛋白缺失,另外还发现了 2 种新型犬肌肉疾病,分别表现为钙网蛋白-3和钙蛋白酶-3缺失。在 2 只猫中,所有肌纤维均检测到β-SG 和抗肌萎缩蛋白羧基末端结构域缺失。使用更广泛的抗体面板进行免疫荧光和 Western blot 分析,可以正确识别犬猫的肌肉疾病,并为随后的靶向基因测试提供方向。