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Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D
Skeletal Muscle ( IF 4.9 ) Pub Date : 2021-01-07 , DOI: 10.1186/s13395-020-00257-y
James R Mickelson 1 , Katie M Minor 1 , Ling T Guo 2 , Steven G Friedenberg 3 , Jonah N Cullen 3 , Amanda Ciavarella 4 , Lydia E Hambrook 4 , Karen M Brenner 5 , Sarah E Helmond 6 , Stanley L Marks 7 , G Diane Shelton 2
Affiliation  

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.

中文翻译:

小型腊肠犬中的 Sarcoglycan A 突变导致肢带型肌营养不良 2D

确定了一组相关的小型腊肠犬,它们具有运动不耐受、步态僵硬、吞咽困难、肌红蛋白尿和血清肌酸激酶活性显着升高。结合肌肉活检组织病理学、免疫荧光显微镜检查和western blotting鉴定肌病的具体病理表型,结合全基因组SNP阵列基因型数据和全基因组测序确定其遗传基础。肌肉活检是营养不良的。基于免疫染色和蛋白质印迹,怀疑肌聚糖病是一种肢带型肌营养不良症,其中 α、β 和 γ-肌聚糖均不存在或减少。遗传作图和全基因组测序确定了肌聚糖 A 亚基基因 (SGCA) 中的过早终止密码子突变。受影响的腊肠犬在几个大洲得到确认。
更新日期:2021-01-07
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