Department of Neurology, Showa University Fujigaoka Hospital, Yokohama, Japan.
Int J Neurosci. 2010 Feb;120(2):144-9. doi: 10.3109/00207450903279717.
Progressive muscular dystrophies are genetic diseases with various modes of transmission. Duchenne muscular dystrophy (DMD) is caused by the defect of dystrophin, and Fukuyama congenital muscular dystrophy (FCMD) is caused by an abnormal fukutin gene leading to the glycosylation defect of alpha-dystroglycan. Dystrobrevin is one member of the dystrophin glycoprotein complex and its binding partners include dysbindin, syncoilin, and beta-synemin (desmuslin). Dysbindin is reported to be upregulated at the protein level in mdx mouse muscles, and syncoilin protein is also reported to be upregulated in biopsied muscles with neuromuscular disorders. In the present study we measured mRNA levels of dysbindin, syncoilin, and beta-synemin in biopsied muscles with DMD and FCMD. Upregulation of human dysbindin mRNA was observed in DMD muscles in comparison with normal muscles (p < .05). The differences in human syncoilin and beta-synemin mRNA ratios between DMD and normal muscles were not statistically significant, although upregulation tendency of human syncoilin mRNA was noted in DMD muscles (.05 < p < .1). Furthermore, the differences of human dysbindin, syncoilin, and beta-synemin mRNA ratios between FCMD and normal muscles were not statistically significant. These data provide insight into the pathophysiology of these muscular dystrophies.
进行性肌营养不良症是具有多种遗传方式的遗传性疾病。杜氏肌营养不良症（DMD）是由抗肌萎缩蛋白缺陷引起的，而先天性肌营养不良症（FCMD）是由异常的福ukin 基因导致α-肌聚糖糖基化缺陷引起的。肌联蛋白是肌营养不良蛋白糖蛋白复合物的一个成员，其结合伴侣包括 dysbindin、syncoilin 和 β-肌联蛋白（desmuslin）。据报道，mdx 小鼠肌肉中的 dysbindin 蛋白水平上调，神经肌肉疾病活检肌肉中的 syncoilin 蛋白也上调。在本研究中，我们测量了 DMD 和 FCMD 活检肌肉中 dysbindin、syncoilin 和 β-肌联蛋白的 mRNA 水平。与正常肌肉相比，DMD 肌肉中人 dysbindin mRNA 的上调（p<.05）。DMD 肌肉中人类 syncoilin 和 β-肌联蛋白 mRNA 比值的差异没有统计学意义，尽管 DMD 肌肉中人类 syncoilin mRNA 的上调趋势（.05 < p <.1）。此外，FCMD 与正常肌肉之间人 dysbindin、syncoilin 和 β-肌联蛋白 mRNA 比值的差异无统计学意义。这些数据为这些肌营养不良症的病理生理学提供了深入的了解。
