Title: Mitochondrial Deafness and Nuclear Modifier Genes
Abstract: Mutations in the mitochondrial DNA(mtDNA) have been shown to be one important cause of deafness,which have been associated with both syndromic and non-syndromic forms of hearing loss.These mutations often occur in the mitochondrial tRNA genes and 12S rRNA genes.Non-syndromic deafness-linked mutations are often homoplasmic and individuals harboring these mutations typically present phenotypic heterogeneity.It indicates that other factors such as environmental factor(s),mitochondrial haplotype(s) or nuclear modifier gene(s),are involved in the pathogenesis of deafness.Here we mainly reviewed four candidate genes associated with mitochondrial deafness: MTO1,GTPBP3,TFB1M and TRMU,and the research method of these modifier genes.
Publication Year: 2006
Publication Date: 2006-01-01
Language: en
Type: article
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