表观遗传学——耳聋研究的新视野

耳聋是一种常见的人类感觉系统缺陷,新生儿发病率可达1/1000～3/1000。耳蜗感觉神经上皮毛细胞的结构或功能异常可导致耳聋,遗传因素在其中起重要作用。虽然一些与遗传性耳聋相关的基因及染色体位点已经被定位或克隆,仍有很多耳聋的病因尚不清楚。人们发现,除了常见的热点基因突变(GJB2、SLC26A4、线粒体DNA C1494T和A1555G等)外,一些表观遗传学的改变也在耳聋的发生中起重要作用。例如,miR-96突变会导致人和小鼠的渐进性失聪,异常的CpG岛甲基化与一些耳聋综合征的发生有关等。文章着重对表观遗传学在耳聋领域的研究现状和进展进行了综述。

Epigenetics--a new perspective for the study of deafness

Hearing loss is the most common sensory disorder in humans. The newborn morbidity is 1/1000 approximately 3/1000. In most cases, the cause comes from abnormal development of inner-ear or degeneration of the cochlear hair cells. Genetic factors make a significant contribution to hearing impairment. Some genes and chromosome locus responsible for syndromic or non-syndromic hearing loss have been identified. However, etiology of deafness still remains obscure. In addition to some hot spot mutations (GJB2, SLC26A4, mitochondrial DNA C1494T, A1555G, etc.), epigenetics may also provide a significant contribution to this sensory disease. For example, miR-96 seed region mutations can result in progressive hearing loss in humans and mice, and aberrant CpG methylation has been linked to a few inherited syndromes that can induce hearing loss, etc.. This review aims to summarize the research progress of epigenetics in the fields of hearing and deafness.