线粒体电子传递链复合物III和线粒体疾病

摘要

线粒体是细胞内不可或缺的细胞器，它合成细胞所需90%以上的能量。线粒体疾病多为遗传性罕见病，但其致死性强且致病机理还不清晰。电子传递链复合物III是电子传递的重要载体，与呼吸链上其他复合物相比，其与线粒体疾病的联系并不是很清楚。随着人们对复合物III组装过程研究的不断深入，多个致病基因不断被发现，使得人们重新审视其与线粒体疾病的关系。本综述以近年来复合物III的研究进展为基础，分析并总结了相关线粒体疾病的发病机理和未来的研究方向。　　线粒体是细胞内不可或缺的细胞器，它合成细胞所需90%以上的能量。线粒体疾病多为遗传性罕见病，但其致死性强且致病机理还不清晰。电子传递链复合物III是电子传递的重要载体，与呼吸链上其他复合物相比，其与线粒体疾病的联系并不是很清楚。随着人们对复合物III组装过程研究的不断深入，多个致病基因不断被发现，使得人们重新审视其与线粒体疾病的关系。本综述以近年来复合物III的研究进展为基础，分析并总结了相关线粒体疾病的发病机理和未来的研究方向。%Mitochondrion is an essential organelle which produces above 90%of energy in cells. Mitochondrial diseases are rare genetic disorders, but they are potentially life-threatening diseases with unknown pathogenic mechanisms. Complex III(also called Cytochrome c reductase)is directly involved in the electron transport in the mitochondria. Relative to the other respiratory complexes, the complex III is loosely associated with mitochondrial diseases. With the rapid expanding of complex III knowledge in the recent years, multiple mutations in the genes of complex III have been discovered to cause mitochondrial diseases, and this also calls attentions of scientists on the relation between complex III and mitochondrial diseases. Based upon the recent progress of mitochondrial complex III, we summarized the complex III-associated mitochondrial diseases and the future research directions.