电子传递链功能缺陷相关线粒体疾病的治疗进展
鲁何东1 , 刘鑫雨2 , 李 可3 , 钟一宁3 , 王文敬3 , 张 瑜2 , 邓安琪2 , 张 敏2 , 邹佳佳4 , 韩智慧4 , 邹薇薇1,*
1安徽医科大学第一附属医院妇产科生殖医学中心，国家卫生健康委配子及生殖道异常研究重点 实验室，出生人口健康教育部重点实验室，生殖健康与遗传安徽省重点实验室，安徽省生命资源保 存与人工器官工程技术研究中心，合肥 230032 2安徽医科大学第二临床医学院，合肥 230032 3安徽医科大学第一临床医学院，合肥 230032 4安徽医科大学公共卫生学院，合肥 230032
摘 要：
线粒体疾病(mitochondrial diseases, MDs) 与电子传递链功能缺陷密切相关。电子传递链上的五种复合物共同维持电子传递链的正常功能，从而确保ATP 的产生。电子传递链上任何一种复合物的功能缺陷都会损伤线粒体功能，导致线粒体疾病的发生。因此，针对不同的复合物功能缺陷，可以采取相应的治疗措施来挽救其功能，达到缓解或治愈线粒体疾病的目的。本文以电子传递链上五种复合物为研究对象，阐述不同复合物功能缺陷导致的线粒体疾病以及相应的治疗措施。
通讯作者：邹薇薇 , Email:zouweiwei@ahmu.edu.cn
Advances in the treatment of mitochondrial diseases associated with functional defects in electron transport chain
LU He-Dong1 , LIU Xin-Yu2 , LI Ke3 , ZHONG Yi-Ning3 , WANG Wen-Jing3 , ZHANG Yu2 , DENG An-Qi2 , ZHANG Min2 , ZOU Jia-Jia4 , HAN Zhi-Hui4 , ZOU Wei-Wei1,*
1Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Key Laboratory of Population Health Across Life Cycle, Anhui Province Key Laboratory of Reproductive Health and Genetics, Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Hefei 230032, China 2The Second Clinical Medical College of Anhui Medical University, Hefei 230032, China 3The First Clinical Medical College of Anhui Medical University, Hefei 230032, China 4School of Public Health, Anhui Medical University, Hefei 230032, China
Abstract:
Mitochondrial diseases (MDs) are thought to be closely related to the dysfunction of the electron transport chain(ETC). The five complexes in the ETC work cooperatively to maintain the normal function of the ETC and thus ensure the production of ATP. Defects in the function of any one of these complexes can impair mitochondrial function and lead to the occurrence of mitochondrial diseases. Therefore, for functional defects of different complexes, corresponding therapeutic measures can be taken to rescue its function and achieve the alleviation or cure of mitochondrial diseases. In this review, we focus on five complexes in the ETC to illustrate the mitochondrial diseases caused by functional defects of different complexes and the corresponding therapeutic measures.
Communication Author：ZOU Wei-Wei , Email:zouweiwei@ahmu.edu.cn
