线粒体功能缺陷和神经系统疾病

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。

Mitochondrial functional defects and the disorders in the nervous system

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.