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腓骨肌萎缩症(CMT)是一种最常见的周围神经遗传病。随着分子生物学的进展,目前有将近30个不同的遗传位点被定位,20个基因被相继克隆,为阐明不同表型腓骨肌萎缩症的内在共同发病机制提供了分子基础。文章综述了CMT的分子遗传学进展,并从异常的旺氏细胞/轴索的相互作用、轴索运输功能缺陷、蛋白质转运障碍、小分子热休克蛋白相关的神经退行性变等方面总结了CMT发病机理研究进展。
Charcot-Myaldystrophy (CMT) is one of the most common peripheral neuropathies. With the progress of molecular biology, there are currently about 30 different genetic loci being located and 20 genes cloned one after another, which provides the molecular basis for elucidating the inherent common pathogenesis of different types of Charcot-Marie Tooth Syndrome. In this paper, the progress of molecular genetics of CMT is reviewed. CMT is summarized in the aspects of abnormal Waken / axonal interactions, axonal transport defects, protein transport disorders, and small molecule heat shock protein-related neurodegeneration Research Progress on Pathogenesis.