Mitochondrial Gene Mutations And Hereditary Hearing Loss(Review)

Objective: Mitochondrial gene mutation is an important cause of hereditary hearing loss.The A1555 G mutation and C1494 T mutation which located on the mitochondrial gene12 SrRNA are the first mutated mitochondrial mutation associated with inherited deafness.Because there are many unknown mitochondrial gene mutations,in this paper,we summarized the relevant literatures and reviewed the mitochondrial gene mutations associated with hereditary deafness in order to have a comprehensive understanding of the role of mitochondrial gene mutation in the pathogenesis of hereditary hearing loss.Method:We select "deafness,hereditary hearing loss,drug-induced hearing loss,mitochondria and gene mutation" as the key words,use the method of literature retrieval,such as common method,retrospective method,fractionation method,and select database at home and abroad on the mitochondrial gene mutation related literature information research and the pathogenesis of hereditary deafness in China CNKI database,Wanfang database,Chinese biomedical literature database,Vip database,PubMed and other academic,then sort information and summarize.Result:Mitochondrial gene mutation is one of the important causes of deafness caused by hereditary hearing loss.Genetic mutations are the leading cause of hereditary hearing loss,but the occurrence of deafness phenotype is also affected by other factors,such as the regulation of nuclear genes and drugs or other environmental factors.Mitochondrial gene mutations associated with hereditary deafness are three species: located on the mitochondrial DNA 12 SrRNA,such as A1555 G mutation,C1494 T mutation,A827 G mutation,961 delT / insC(n)mutation,and T1095 C mutation;located on mitochondrial DNA 16 SrRNA 2227 insAA;located on the mitochondrial tRNA which included:Mitochondrial tRNA ser(UCN)7445A > G mutation,7444 G >A mutation,7511 T > C mutation,7510 T>C mutation,7505 T >C mutation,7462 C > T mutation,mitochondrial tRNA Leu(UUR)A3243G mutation,in mitochondrial tRNAHis T12201 C mutation,12192 Gmutation,and tRNA Thr15927G>A mutation,15910C>T mutation etc.Conclusion:The mitochondrial gene mutation is an important cause of genetic deafness,mainly located in the mitochondrial 12 SrRNA and tRNA.Mitochondrial gene mutations cause both syndromic and non-syndromic deafness.Mitochondrial tRNA Leu(UUR)A3243G mutation is the main cause of syndrome deafness.Mitochondrial 12 SrRNA A1555G mutation,C1494 T mutation,A827 G mutation,961 delT / insC(n)mutation and T1095 C mutation are associated with non-syndromic hearing loss.Mitochondrial 12 SrRNA A1555G mutation and C1494 T mutation are tightly inter-related to aminoglycoside-induced deafness.