NPC蛋白研究进展

Progress on Niemann- Pick C Proteins

C型尼曼氏病 (Niem ann-Pick type C,N PC)是一种致命的神经退行性失调疾病 ,常见于儿童早期发作。其特征是患者细胞中胆固醇和鞘糖脂等脂类沉积在晚期胞内体 /溶酶体中。 NPC症状是由 N PC1或 NPC2的功能缺陷引起的。NPC1是一个跨膜蛋白 ,目前认为它参与内吞后的底物向高尔基复合体或胞内其它位点运输 ,在脂类物质循环和平衡控制机制中起重要作用。NPC2是一个可溶性溶酶体蛋白 ,可结合胆固醇。目前尚不清楚 NPC1和 N PC2如何调控溶酶体等细胞器的确切功能。

Niemann-Pick type C, or NPC for short, is an early childhood disease exhibiting progressive neurological degeneration. At the cellular level, the disease is a result of improper trafficking of lipids such as cholesterol and glycosphingolipids (GSLs) to a late endosome/ lysosome compartment. NPC cells have defects in the proteins NPC1 or NPC2. NPC1 is a transmembrane protein believed involved in retroendocytic shuttling of substrate(s) to the Golgi and possibly elsewhere in cells as part of an essential recycling/ homeostatic control mechanism. NPC2 is a soluble lysosomal protein known to bind cholesterol. The precise roles of NPC1 and NPC2 in late endosomal/ lysosomal function remain unclear.