Berrettini Stefano, Forli Francesca, Passetti Susanna, Rocchi Anna, Pollina Luca, Cecchetti Denise, Mancuso Michelangelo, Siciliano Gabriele
Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy.
Biosci Rep. 2008 Feb;28(1):49-59. doi: 10.1042/BSR20070027.
Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.
在过去十年中，人们发现线粒体DNA（mtDNA）中的一些不同突变与综合征型和非综合征型听力障碍有关。它们作为耳聋病因的实际发生率了解甚少，且普遍被低估。在已知的mtDNA突变中，12S基因中的A1555G突变已被确定为最常见的遗传性耳聋病因之一，并且已被描述与非综合征型进行性感音神经性听力损失（SNHL）以及氨基糖苷类药物诱导的SNHL均有关联。在本研究中，我们调查了散发性和家族性特发性非综合征型SNHL患者中mtDNA改变的情况，以评估mtDNA改变作为耳聋病因的频率，并描述线粒体非综合征型SNHL的听力学表现。与先前的研究一致，我们发现A1555G突变导致了相当比例（5.4%）的孤立性特发性感音神经性听力障碍病例。
