中华耳科学杂志2024，Vol.22Issue(4)：689-693,5.DOI:10.3969/j.issn.1672-2922.2024.04.032
线粒体基因突变相关遗传性耳聋的研究进展
Progress of Research on Hereditary Deafness Associated with Mitochondrial Gene Mutations
摘要
Abstract
Mitochondria are the site of aerobic respiration in eukaryotic cells.ATP is produced by oxidative phos-phorylation,which is closely related to cell differentiation,signal transduction,metabolic homeostasis and cell apopto-sis.Most of the proteins in mitochondria are encoded by nuclear genes,while a small part is encoded by mitochondrial DNA(mtDNA).mtDNA mutation can cause abnormal protein synthesis in mitochondria and lead to cell dysfunction.mtDNA mutation is one of the important causes of hereditary deafness.This article reviews the latest progress of re-search on mtDNA mutations and hereditary deafness from the aspects of influencing factors,mutation sites,and treat-ment and prevention,focusing on the mtDNA point mutation in nonsyndromic hearing loss.关键词
线粒体/基因突变/遗传性耳聋Key words
mitochondria/genetic mutations/hereditary deafness引用本文复制引用
齐心,苏钰,戴朴..线粒体基因突变相关遗传性耳聋的研究进展[J].中华耳科学杂志,2024,22(4):689-693,5.基金项目
海南省自然科学基金重点研发计划项目(ZDYF2020142) （ZDYF2020142）
国家自然科学基金国家重大科研仪器研制项目(61827805) （61827805）
国家自然科学基金青年项目(81400471) （81400471）
