与细胞质动力蛋白相关神经系统变性病的研究进展

Dyneinopathy: From Animal Model to Human Beings

细胞质动力蛋白作为真核生物体内微管运输系统中的逆向运输蛋白具有重要的生理作用。编码该蛋白的基因发生突变往往会导致严重的疾病甚至死亡。随着对动力蛋白结构与功能的不断认识,它与人类神经系统变性病的密切关系逐渐得以揭示。有报道运动神经元病与遗传性周围神经病(Charcot-Marie-Tooth病)患者存在动力蛋白基因的突变。把这一类与动力蛋白功能障碍相关的人类神经系统疾病称之为细胞质动力蛋白病。文中将对此类与逆向轴浆运输障碍相关的神经变性病研究进展作一综述。

Cytoplasmic dynein, the only retrograde transporter in eukaryote cells, plays an important role in cellular life. The dynein gene mutations usually lead to severe disorder or death. With the understanding for cytoplasmic dynein＇s structures and functions, its relationships with nervous system degenerative disease become more and more clear. It was reported that there are dynein gene mutations in patients with Charcot-Marie-Tooth disease and motor neuron disease. For the close relationship between cytoplasmic dynein and some concrete neurodegeneration disease, the new disease was defined as dyneinopathy. In this review, some novel research progresses about cytoplasmic dynein both in animal models and human beings were discussed.