甲基丙二酸血症线粒体功能障碍研究进展  

Research progress of mitochondrial dysfunction in methylmalonic acidemia

作　　者：程沛迪 郑萍[1] 陈倩[1] Cheng Peidi;Zheng Ping;Chen Qian(Department of Neurology,Affiliated Children's Hospital of Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院神经内科,北京100020

出　　处：《中国医学前沿杂志（电子版）》2024年第8期69-72,共4页Chinese Journal of the Frontiers of Medical Science(Electronic Version)

基　　金：国家重点研发项目(2022YFC2703903);吴阶平医学基金会临床科研专项(320.6750.2021-04-33);北京亦城合作发展基金会科研项目罕见病相关课题资助公益项目(YJXJ-JZ-2021-0014-19,YCXJ-JZ-2023-017)。

摘　　要：甲基丙二酸血症(methylmalonic acidemia,MMA)是一种常染色体隐性遗传的有机酸代谢障碍性疾病,表现为多系统脏器的病理改变及功能障碍。线粒体是细胞内进行能量代谢的中心,对维持机体正常生理功能起着极为重要的作用。MMA患者体内线粒体形态及功能障碍、线粒体自噬途径受损、氧化应激增加,对组织或器官造成威胁。本文将综述MMA中线粒体功能及稳态的异常,以期为寻找新的治疗方向提供更多思路。Methylmalonic acidemia(MMA)is an autosomal recessive inherited organic acid metabolic disorder,characterized by pathological changes and dysfunction of multiple systemic organs.Mitochondria is the center of energy metabolism in the cell and play a crucial role in normal physiological function of the body.In MMA patients,mitochondrial morphology and function are impaired,the mitochondrial autophagy pathway is damaged,and chemical stress is increased,posing a threat to tissues or organs.In this review,the abnormalities of mitochondrial function and homeostasis in MMA will be reviewed in order to provide more ideas for finding new therapeutic directions.

关 键 词：线粒体 甲基丙二酸血症 电子传递链 线粒体自噬 氧化应激 

分 类 号：R725.8[医药卫生—儿科]