THE MUTANT MDX - INHERITED MYOPATHY IN THE MOUSE - MORPHOLOGICAL-STUDIES OF NERVES, MUSCLES AND END-PLATES
THE MUTANT MDX - INHERITED MYOPATHY IN THE MOUSE - MORPHOLOGICAL-STUDIES OF NERVES, MUSCLES AND END-PLATES
复制标题
DOI：
10.1093/brain/110.2.269
复制
发表时间：
1987-04-01
期刊：
影响因子：
14.5
通讯作者：
DUCHEN, LW
中科院分区：
文献类型：
--
作者：
TORRES, LFB;DUCHEN, LW
mdx突变小鼠是在研究小鼠丙酮酸激酶遗传变异时首次发现的。受影响的小鼠血清中这种酶的水平很高，尽管表现出很小的残疾，但它们具有广泛和严重的肌肉疾病。光镜和电子显微镜，肌肉酶组织化学和胆碱酯酶-银显色法联合用于1天至1岁的受影响和对照动物的研究。一个早期的超微结构异常，目前已经在1天分散局灶性流的Z线。后来也有节段性肌纤维坏死和再生。在10天至1岁的年龄范围内，在几块肌肉中评估了显示坏死或内部核再生的肌纤维的比例。急性节段性坏死和再生在1至2个月时最明显，尽管它们存在于所有年龄段。内核纤维的数目逐渐增加，直到3个月时，70-80%显示这种异常。神经末梢不受影响，但有一个在成年动物的运动终板突触后褶皱的数量和深度减少，证实了形态学分析。对L4运动根和胫神经的定量研究表明，各年龄组的神经纤维数量、轴突直径和髓鞘厚度均正常。在CNS或其他器官中未发现定性异常。研究结果强烈表明mdx突变体患有原发性肌肉疾病，而神经系统正常。
The mdx mutant mouse was first observed during a survey of genetic variations of pyruvate kinase in the mouse. Affected mice have high serum levels of this enzyme and although showing little disability they have widespread and severe muscle disease. Light and electron microscopy, muscle enzyme histochemistry and combined cholinesterase-silver impregnations were used for the study of affected and control animals aged 1 day to 1 year. An early ultrastructural abnormality present already at 1 day was scattered focal streaming of Z-lines. Later there was also segmental muscle fiber necrosis and regeneration. The proportion of muscle fibers showing either necrosis, regneration of internal nuclei was assessed in several muscles, at ages ranging from 10 days to 1 year. Acute segmental necrosis and regeneration were most marked at 1 to 2 months, although they were present at all ages. The number of fibers with internal nuclei increased progressively until 3 months when 70-80% showed this abnormality. Nerve terminals were unaffected but there was a reduction in the number and depth of postsynaptic folds at motor end-plates in adult animals, confirmed by morphometric analysis. Quantitative study of L4 motor root and tibial nerve showed that fiber numbers, axonal calibers and myelin sheath thickness were normal at all ages. No qualitative abnormalities were found in the CNS or other organs. The findings strongly suggest that the mdx mutant has a primary muscle disease and that the nervous system is normal.