Progress of Research on Hereditary Deafness Associated with Mitochondrial Gene Mutations
QI Xin
SU Yu
DAI Pu
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.
Keywords：mitochondriagenetic mutationshereditary deafness
Publication Date：2024-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 689-693 )