Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, 55113, USA.
Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA, 92093-0709, USA.
Skelet Muscle. 2021 Jan 7;11(1):2. doi: 10.1186/s13395-020-00257-y.
A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified.
Muscle biopsy histopathology, immunofluorescence microscopy, and western blotting were combined to identify the specific pathologic phenotype of the myopathy, and whole genome SNP array genotype data and whole genome sequencing were combined to determine its genetic basis.
Muscle biopsies were dystrophic. Sarcoglycanopathy, a form of limb-girdle muscular dystrophy, was suspected based on immunostaining and western blotting, where α, β, and γ-sarcoglycan were all absent or reduced. Genetic mapping and whole genome sequencing identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA). Affected dachshunds were confirmed on several continents.
This first SGCA mutation found in dogs adds to the literature of genetic bases of canine muscular dystrophies and their usefulness as comparative models of human disease.
一组具有运动不耐受、僵硬步态、吞咽困难、肌红蛋白尿和显著升高的血清肌酸激酶活性的相关迷你腊肠犬被鉴定出来。
肌肉活检组织病理学、免疫荧光显微镜检查和 Western 印迹相结合，以确定肌病的特定病理表型，全基因组 SNP 阵列基因型数据和全基因组测序相结合，以确定其遗传基础。
肌肉活检显示为营养不良性。免疫染色和 Western 印迹显示，存在肌节糖蛋白病，这是一种肢带型肌营养不良症，α、β 和 γ-肌节糖蛋白均缺失或减少。遗传图谱和全基因组测序确定了肌节糖蛋白 A 亚基基因（SGCA）中的一个提前终止密码子突变。受影响的腊肠犬在几个大洲都有发现。
在犬中首次发现的 SGCA 突变增加了犬类肌肉营养不良症的遗传基础及其作为人类疾病比较模型的文献。
Zotero 插件
