线粒体耳聋与核修饰基因

Mitochondrial Deafness and Nuclear Modifier Genes

线粒体突变是导致耳聋的重要原因,可以引起综合征和非综合征耳聋,这些突变主要位于线粒体12S rRNA和tRNA基因上。引起非综合征耳聋的突变主要以同质性形式存在,并且表型呈现高度异质性,说明其它因素参与了疾病的形成,包括环境因子,线粒体单倍型和核修饰基因。本文介绍了影响线粒体耳聋表型的4个候选核修饰基因:MTO1、GTPBP3、TFB1M和TRMU及其研究方法。

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 patho- genesis 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.