Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside
Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside
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DOI：
10.1177/000348940511400213
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发表时间：
2005-02-01
影响因子：
1.4
通讯作者：
Usami, S
中科院分区：
文献类型：
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作者：
Matsunaga, T;Kumanomido, H;Usami, S
为了阐明同质线粒体A1555G突变导致听力损失的病理生理学和遗传学机制，我们对一个携带该突变的日本大家庭的67名母系成员进行了听力学和遗传学分析。听力图上有一致的模式，具有感觉性老年性耳聋的特征，各级听力损失的耳蜗源，以及高度脆弱的外毛细胞。同一兄弟姐妹组中受影响的受试者的听力损失程度相似，但兄弟姐妹组之间的听力损失程度不同，这表明核修饰基因参与其中。线粒体DNA全序列在不同程度听力损失的受试者中完全相同，并且缺乏额外的致病突变。对于感音神经性耳聋的诊断，即使在没有氨基糖苷类药物暴露的情况下，线粒体A1555G突变也应该被考虑。
To elucidate the pathophysiological and genetic mechanisms of hearing loss associated with the homoplasmic mitochondrial A1555G mutation in the absence of aminoglycoside expo sure, we conducted audiological and genetic analyses on 67 maternally related members of a large Japanese family carrying this mutation. A consistent pattern was evident in the audiograms, with features of sensory presbycusis, cochlear origin at all levels of hearing loss, and a high degree of vulnerability of outer hair cells. That the degree of hearing loss was similar in affected subjects within the same sibling group but differed between sibling groups suggests the involvement of nuclear modifier genes. Total mitochondrial DNA sequences were completely identical among subjects with various levels of hearing loss, and lacked additional pathogenic mutations. For the diagnosis of sensorineural hearing loss, the mitochondrial A1555G mutation should be considered when these features are present even in the absence of aminoglycoside exposure.