Cockayne综合征衰老机制及其治疗进展  

Aging mechanism and treatment progress of Cockayne syndrome

作　　者：胡丽竹 王静[2,3] 王秋红 陈海旭[4,5] 邹丽萍 HU Li-Zhu;WANG Jing;WANG Qiu-Hong;CHEN Hai-Xu;ZOU Li-Ping(Graduate School,Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Faculty of Pediatrics,Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Department of Pediatrics,First Medical Center,Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China;National Clinical Research Center for Geriatric Diseases,Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Institute of Geriatrics,Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Beijing Institute for Brain Disorders,Center for Brain Disorders Research of Capital Medical University,Beijing 100069,China)

机构地区：[1]中国人民解放军总医院研究生院,北京100853 [2]中国人民解放军总医院儿科医学部,北京100853 [3]中国人民解放军总医院第一医学中心儿科,北京100853 [4]中国人民解放军总医院国家老年疾病临床医学研究中心,北京100853 [5]中国人民解放军总医院第二医学中心老年医学研究所,北京100853 [6]首都医科大学脑重大疾病研究中心,北京脑重大疾病研究院,北京100069

出　　处：《中华老年多器官疾病杂志》2023年第1期67-70,共4页Chinese Journal of Multiple Organ Diseases in the Elderly

基　　金：国家老年疾病临床研究中心开放课题(NCRCG-PLAGH-2019004);国家重点研发计划(2016 YFC 1000707);科技部重点研发计划(2017YFC0908402)。

摘　　要：Cockayne综合征是以皮肤光过敏、生长发育障碍、视听觉功能减退、神经系统受累及加速性衰老为特征的一种早衰症。本文综述了Cockayne综合征在各系统脏器衰老方面的表现,其衰老的机制主要与转录和转录偶联核苷酸切除修复缺陷有关,近年研究表明碱基切除修复及线粒体功能障碍在Cockayne综合征发病中可能也起关键作用。本文结合衰老致病机制研究进一步探讨Cockayne综合征靶点治疗的研究进展。Cockayne syndrome is a progeria syndrome characterized by skin photosensitivity,growth retardation,visual and auditory loss,degeneration of the nervous system and accelerated aging.In this paper,we introduced the aging manifestations of the syndrome in multi-system organs,reviewed its pathogenic mechanisms of defects in transcription and transcription-coupled nucleotide excision repair,and discussed possible key roles of base excision repair and mitochondrial dysfunction in the pathogenesis.We further elucidated the research progress of targeted therapy for Cockayne syndrome in combination with the researches concerning the pathogenic mechanism of aging.

关 键 词：Cockayne综合征 衰老 DNA损伤 碱基切除修复 线粒体功能障碍 

分 类 号：R596[医药卫生—内科学]