Kalatzis V, Petit C
Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
Hum Mol Genet. 1998;7(10):1589-97. doi: 10.1093/hmg/7.10.1589.
What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing defects into distinct clinical entities or subclasses, the collection of epidemiological data, the creation of molecular diagnostic tests, the improvement of genetic counselling services and the development of new therapeutics. In this review, we will introduce some general considerations on hereditary hearing loss and on the structure and function of the ear, present the rapidly emerging data on the molecular basis of syndromic and non-syndromic forms of hearing loss and comment on relevant recent progress in this field of research. Generally speaking, the isolation of genes underlying hereditary hearing loss has, as yet, had little impact on our understanding of the biology of the ear, whereas it has made major contributions to the medical field, in particular due to the recognition of two genes, Cx26 and mitochondrial 12S rRNA , as frequently underlying cases of non-syndromic hearing impairment.
从基础和医学角度来看，耳聋研究领域的真正进展该如何定义呢？从基础角度而言，进展将通过我们对耳朵发育和生理学知识的提升来衡量。从医学角度来说，进展将促使把广泛的听力缺陷类别细分为不同的临床实体或子类，收集流行病学数据，创建分子诊断测试，改善遗传咨询服务以及开发新的治疗方法。在这篇综述中，我们将介绍一些关于遗传性听力损失以及耳朵结构与功能的一般性考量，呈现关于综合征型和非综合征型听力损失分子基础的迅速涌现的数据，并对该研究领域的相关近期进展进行评论。一般而言，遗传性听力损失相关基因的分离，到目前为止，对我们理解耳朵生物学的影响甚微，然而它却在医学领域做出了重大贡献，特别是由于认识到两个基因，即Cx26和线粒体12S rRNA，它们常常是导致非综合征型听力障碍病例的原因。
