Mitofilin对线粒体功能和疾病发生的影响.pdfVIP

中国细胞生物学学报 Chinese Journal of Cell Biology 2014, 36(4): 540–545 DOI: 10.11844/cj cb.2014.04.0393 Mitofilin对线粒体功能和疾病发生的影响 * 况凌云 董士业 刘丹慧 (温州医科大学检验医学院、生命科学学院, 浙江省医学遗传学重点实验室, 温州325035) 摘要 Mitofilin是一种线粒体内膜蛋白, 与多种线粒体蛋白相互作用, 共同参与线粒体内膜 嵴形态的维持、线粒体内蛋白质的转运过程等。干扰mitofilin 的表达不仅引起线粒体结构的异常, 而且明显抑制了线粒体功能的正常发挥。最近的研究表明, 在多种疾病中mitofilin都异常表达, 从 而导致线粒体结构的完整性和功能的障碍, 促进了疾病的发生发展。 关键词 mitofilin; 线粒体; 嵴膜; 蛋白转运; 疾病 The Role of Mitofilin in the Regulation of Mitochondrial Functions and Its Implication in Diseases Kuang Linyun, Dong Shiye, Liu Danhui* (School of Laboratory Medicine, and Life Sciences, Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou 325035, China) Abstract Mitofilin, a mitochondrial inner membrane protein, is involved in many important biological pro- cesses such as the maintenance of mitochondrial cristae morphology, mitochondrial protein transport processes, etc. Alteration of mitofilin expression level does not only affect mitochondrial structure, but also significantly inhibits normal mitochondrial functions. Recent studies showed that mitofilin was abnormal expressed in a variety of diseases, leading to altered mitochondrial structural integrity and functions, and promoting the development of the diseases. Key words mitofilin; mitochondia; cristae; protein transport; disease 线粒体结构的完整性和功能的发挥, 是机体得 1 Mitofilin定位于线粒体内膜 以正常运转的前提。当线粒体结构受损后, 线粒体 线粒体是一个双层膜结构的细胞器, 由线粒体 内相应的能量代谢、蛋白质转运、核酸的修复等功 外膜、内膜、膜间隙以及基质构成。线粒体外膜和 能都将受到影响, 而这些功能紊乱的线粒体很可能