Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations
Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations
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DOI：
10.1016/s0378-5955(97)00077-4
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发表时间：
1997-08-01
期刊：
影响因子：
2.8
通讯作者：
Keithley, E
中科院分区：
文献类型：
--
作者：
FischelGhodsian, N;Bykhovskaya, Y;Keithley, E
老年性耳聋是一种组织学和遗传异质性的疾病，随着年龄的增长导致进行性，主要是感音神经性听力损失。获得性线粒体DNA缺陷被认为是衰老的重要决定因素，特别是在神经肌肉组织中。本文对5例老年性痴呆患者颞骨的螺旋神经节和膜迷路进行了线粒体编码的细胞色素氧化酶II基因突变检测。与对照组相比，结果表明外周听觉系统的线粒体突变通常发生在与年龄相关的听力损失中，突变积累的数量和位置存在很大的个体差异，并且至少一部分老年性耳聋患者在听觉组织中具有高度显著的突变负荷。这项工作支持了一种假设，即获得性线粒体突变是老年性耳聋患者听力损失的决定因素。
Presbycusis is a histologically and genetically heterogenous group of disorders, which lead to progressive, primarily sensorineural hearing loss with aging. Acquired mitochondrial DNA defects have been proposed as important determinants of aging, particularly in neuro-muscular tissues. The spiral ganglion and membranous labyrinth from archival temporal bones of 5 patients with presbycusis were examined for mutations within the mitochondrially-encoded cytochrome oxidase II gene. When compared to controls, results indicate that mitochondrial mutations in the peripheral auditory system occur commonly with age-related hearing loss, that there is great individual variability in both quantity and location of mutation accumulation, and that at least a proportion of presbycusis patients have a highly significant load of mutations in auditory tissue. This work supports the hypothesis that acquired mitochondrial mutations are a determinant of hearing loss in a subgroup of presbycusis patients.