Paulin Denise, Li Zhenlin
Biologie moléculaire de la différenciation, Université Paris, 75251 Paris, France.
Exp Cell Res. 2004 Nov 15;301(1):1-7. doi: 10.1016/j.yexcr.2004.08.004.
Desmin is a muscle-specific protein and a key subunit of the intermediate filament in cardiac, skeletal and smooth muscles. Desmin filaments are mainly located at the periphery of Z-disk of striated muscles and at the dense bodies of smooth muscle cells, and they have been postulated to play a critical role in the maintenance of structural and mechanical integrity of the contractile apparatus in muscle tissues. This review summarizes the findings in the regulation of the desmin gene and function of the desmin protein. The expression of desmin gene is regulated by a combination of different transcription control regions in muscle cells. The results from mice deficient in desmin reveal the fundamental role of desmin filaments in cell architecture, force transmission and mitochondrial function. Mice lacking desmin postnatally develop a dilated cardiomyopathy, a skeletal myopathy and smooth muscle defects. Some of desmin-related myopathies are attributable to a missense mutations and deletions in the desmin gene. Other desmin-related myopathies, in which the desmin gene is not mutated, could be related to mutations of the genes encoding the proteins that interact with desmin.
结蛋白是一种肌肉特异性蛋白，是心肌、骨骼肌和平滑肌中间丝的关键亚基。结蛋白丝主要位于横纹肌Z盘的周边和平滑肌细胞的致密体处，据推测它们在维持肌肉组织收缩装置的结构和机械完整性方面发挥着关键作用。本综述总结了结蛋白基因调控和结蛋白功能方面的研究结果。结蛋白基因的表达受肌肉细胞中不同转录控制区域的组合调控。结蛋白缺陷小鼠的研究结果揭示了结蛋白丝在细胞结构、力传递和线粒体功能中的重要作用。出生后缺乏结蛋白的小鼠会发展为扩张型心肌病、骨骼肌病和平滑肌缺陷。一些与结蛋白相关的肌病可归因于结蛋白基因的错义突变和缺失。其他结蛋白相关的肌病，其中结蛋白基因未发生突变，可能与编码与结蛋白相互作用的蛋白质的基因突变有关。
