《生命科学》 2012, 24(6): 549-557

线粒体功能缺陷和神经系统疾病

米　慧^1，2，林　蓓^1，2，管敏鑫^1，3*

(1 温州医学院Attardi线粒体生物医学研究院和浙江省医学遗传学重点实验室，温州 325035；2 温州医学院眼视光学院，温州 325027；3 浙江大学生命科学学院，杭州 310023)

摘　要：摘　要：线粒体呼吸链缺陷一直被认为是诱发线粒体疾病的重要因素，这有助于研究人员阐释其遗传和临床多样性。然而，线粒体的其他功能也具有重要意义，包括蛋白质运输、细胞器动力学和细胞凋亡。调控这些功能的基因缺陷不仅导致神经和精神疾病，而且还导致年龄相关的神经变性疾病。因此，引起越来越多的关注。在讨论呼吸链缺陷引起相关神经系统疾病的一些致病难题后，就线粒体动力学改变引起的相关神经系统疾病病因和常见神经变性疾病的病理生理机制作一综述。
关键词：线粒体DNA；母系遗传；氧化应激；细胞凋亡；氧化磷酸化；衰老

Mitochondrial functional defects and the disorders in the nervous system

MI Hui^1，2， LIN Bei^1，2， GUAN Min-Xin^1，3*

(1 Giuseppe Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics， School of Life Sciences， Wenzhou Medical College， Wenzhou 325035， China; 2 School of Ophthalmology and Optometry， Wenzhou Medical College， Wenzhou 325027， China; 3 College of Life Science， Zhejiang University， Hangzhou 310023， China)

Abstract: Abstract: Mitochondrial diseases have traditionally been ascribed to defects of the respiratory chain， which helped researchers explain their genetic and clinical complexity. However， other mitochondrial functions are greatly important for the nervous system， including protein importation， organellar dynamics， and cell death. Defects in genes controlling these functions are attracting increasing attention as causes not only of neurological and psychiatric diseases but also of age-related neurodegenerative disorders. After discussing some pathogenic conundrums regarding the neurological diseases of the respiratory chain defects， we review altered mitochondrial dynamics in the etiology of specific neurological diseases and in the physiopathology of more common neurodegenerative disorders.
Key words: mitochondrial DNA; maternal inheritance; oxidative stress; apoptosis; oxidative phosphorylation; aging