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山东大学学报 (医学版) ›› 2020, Vol. 58 ›› Issue (8): 34-41.doi: 10.6040/j.issn.1671-7554.0.2020.0725

• 脑科学与类脑智能研究专题 • 上一篇    下一篇

线粒体与脑疾病

焉传祝*(),王伟,纪坤乾,赵玉英   

  1. 山东大学齐鲁医院神经内科，山东 济南 250012
  • 收稿日期:2020-05-01 出版日期:2020-08-07 发布日期:2020-08-07
  • 通讯作者: 焉传祝 E-mail:chuanzhuyan@163.com
  • 作者简介:焉传祝，医学博士，博士研究生导师，二级教授，泰山学者特聘专家。山东大学神经病学系主任，山东大学齐鲁医院副院长，青岛院区院长、脑科中心主任。主要研究方向为神经系统疑难罕见病，长期专注神经系统遗传变性疾病,神经肌肉、神经遗传代谢疾病,肌无力,肌萎缩,周围神经疾病以及神经免疫疾病的临床诊治和病理机制研究等。2013年成立山东大学神经肌肉与变性疾病研究所、山东省医药卫生神经系统罕见病重点实验室。目前储存冷冻神经肌肉活检标本和DNA标本5 000余例，涵盖近百种神经系统的疑难罕见病。在对国内脂质沉积性肌病的临床和病因研究中，发现了中国人脂质沉积性肌病对单用维生素B2治疗有肯定疗效，其病因是电子转运黄素蛋白脱氢酶(ETFDH)基因突变。该研究成果使全国近千例脂质沉积性肌病患者受益。在线粒体病、糖原累积病和炎症性肌病的临床诊治和病理机制研究领域也进行了较为深入的探索。承担国家自然科学基金项目4项，卫生部部属医院临床重点项目1项。共发表论文100余篇，其中在《Annals of Neurology》《Neurology》《Acta Neuropathologica》《J Neurol Neurosurg Psychiatry》《Stroke》《Lancet》《Clinical Picture》等国外期刊发表第一作者或通讯作者论文40余篇。主编著作2部，参编6部，获山东省科技进步二等奖2项，三等奖1项。目前任中华医学会神经病学分会副主任委员、神经肌肉病学组组长,山东省罕见病防治协会神经病罕见病分会主任委员, 《中华神经科杂志》副总编

Mitochondrial dysfunction and related brain diseases

Chuanzhu YAN*(),Wei WANG,Kunqian JI,Yuying ZHAO   

  1. Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, China
  • Received:2020-05-01 Online:2020-08-07 Published:2020-08-07
  • Contact: Chuanzhu YAN E-mail:chuanzhuyan@163.com

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摘要：

线粒体通过氧化磷酸化途径为机体提供大部分能量，并且参与细胞信号传导、炎症反应、细胞凋亡等多种生理生化过程。大脑对线粒体能量供应的变化十分敏感，线粒体功能障碍可通过多种途径的相互作用，参与遗传代谢性脑疾病、神经退行性脑疾病、精神心理脑疾病和脑老化等的发生发展过程。目前线粒体相关脑疾病尚缺乏特效治疗方案，线粒体的基因靶向治疗研究有望突破线粒体病的治疗瓶颈，为患者带去希望。

关键词: 线粒体脑病, 脑变性病, 精神心理疾病, 脑老化, 基因靶向治疗

Abstract:

Mitochondria provides most of the energy for the body through oxidative phosphorylation (OXPHOS) and participates in various physiological and biochemical processes such as cell signal transduction, inflammatory response and apoptosis. Brain is very sensitive to energy change. Mitochondrial dysfunction is associated with various disorders including genetic and metabolic diseases, neurodegenerative diseases, psychological diseases and brain aging via multiple pathways. At present, there is no specific treatment plan for mitochondrial encephalopathy. Research on mitochondrial gene targeted therapy is expected to break through the treatment bottleneck of mitochondrial diseases and brings hope to patients

Key words: Mitochondrial encephalopathy, Neurodegeneration, Psychological diseases, Brain aging, Targeted therapy

中图分类号: 

  • R742
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