Bioacoustics Research Laboratory, Department of Neurosciences, University of Padua, I-35129 Padua, Italy.
Int J Mol Med. 2013 Oct;32(4):785-94. doi: 10.3892/ijmm.2013.1470. Epub 2013 Aug 16.
Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.
线粒体 DNA（mtDNA）突变已被证明是感音神经性听力损失（SNHL）的一个重要原因。在这项研究中，我们对 169 名患有特发性 SNHL 的听力受损患者及其部分家族性和散发性患者及其亲属进行了临床和基因分析。对其 mtDNA 的四个片段进行分析，发现了一些多态性、众所周知的致病性突变 A1555G 以及不同基因中的一些新突变，提示氨基酸序列发生了变化。在一例可能的氨基糖苷类药物诱导的进行性耳聋患者中发现了 12S rRNA（MT-RNR1）中的一个新的散发性突变，该突变以前未在文献中报道过。
