中华耳科学杂志2018，Vol.16Issue(2)：136-140,5.DOI:10.3969/j.issn.1672-2922.2018.02.002
线粒体功能障碍相关遗传性非综合征型听力损失的研究进展
Progress in Research on Hereditary Non-syndromic Hearing Loss Associated with Mitochondrial Dysfunctions
摘要
Abstract
Mitochondria possess genetic materials independent of the nuclear genes.Mitochondrial dysfunctions cause a variety of diseases including hereditary non-syndromic hearing loss.Auditory cells that operate on high energy expenditure from oxidative phosphorylation require high level of mitochondrial activities.Mitochondrial gene mutations that affect the functions of important proteins result in abnormal oxidative phosphorylation processes,which in turn trig-ger downstream activation of ROS-AMPK-E2F1 pathway and cause damage and apoptosis of inner ear cells.This paper reviews a few recently established animal models used in studies of human mitochondrial gene mutations associated with hereditary non-syndromic hearing loss.The review summarizes underlying cellular and molecular mechanisms in several types of hearing loss due to mitochondrial dysfunctions.Clinical relevance and future treatment regimens are al-so discussed.关键词
线粒体功能障碍/遗传性非综合征性听力损失/动物模型/ROS-AMPK-E2F1通路Key words
Mitochondrial Dysfunction/Hereditary Non-syndromic Hearing Loss/Animal Models/ROS-AMPK-E2F1 Pathway分类
医药卫生引用本文复制引用
赵晶晶,汪琪璇,蔺欣,李根,宋雷,吴皓..线粒体功能障碍相关遗传性非综合征型听力损失的研究进展[J].中华耳科学杂志,2018,16(2):136-140,5.基金项目
国家自然科学基金项目,项目编号:81770995 This study was supported by grants from the Natural Science Foundation of China(No.81770995) （No.81770995）
