Hutchin T
Academic Department of Geriatric Medicine, University of Birmingham, UK.
Acta Otolaryngol. 1999 Jan;119(1):48-52. doi: 10.1080/00016489950181927.
Recent studies have identified a mitochondrial DNA mutation (1555G) which causes sensorineural hearing loss (SNHL). In many cases deafness follows exposure to aminoglycoside antibiotics, the 1555G mutation sensitizing the inner ear to these drugs. The 50 cases reported to date are discussed, as are the possible mechanisms behind the pathogenesis of this mutation. This finding in families from a wide range of ethnic backgrounds suggests that the 1555G mutation is one of the more common genetic causes of SNHL and provides a fascinating example of how a genetic mutation interacts with an environmental factor with harmful effect.
最近的研究已经确定了一种导致感音神经性听力损失（SNHL）的线粒体DNA突变（1555G）。在许多情况下，接触氨基糖苷类抗生素后会出现耳聋，1555G突变使内耳对这些药物敏感。本文讨论了迄今为止报告的50个病例，以及这种突变发病机制背后的可能机制。在来自广泛种族背景的家庭中的这一发现表明，1555G突变是SNHL较常见的遗传原因之一，并提供了一个基因突变如何与环境因素相互作用产生有害影响的引人入胜的例子。
