Gardner J C, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J, Beighton P
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
J Med Genet. 1997 Nov;34(11):904-6. doi: 10.1136/jmg.34.11.904.
The vestibular and ototoxic effects of the aminoglycoside antibiotics (streptomycin, gentamycin, kanamycin, tobramycin, neomycin) are well known; streptomycin, in particular, has been found to cause irreversible, profound, high frequency sensorineural deafness in hypersensitive persons. Aminoglycoside ototoxicity occurs both sporadically and within families and has been associated with a mitochondrial DNA (mtDNA) 1555A to G point mutation in the 12S ribosomal RNA gene. We report on the molecular analysis of a South African family with streptomycin induced sensorineural deafness in which we have found transmission of this same predisposing mutation. It is now possible to identify people who are at risk of hearing loss if treated with aminoglycosides in the future and to counsel them accordingly. In view of the fact that aminoglycoside antibiotics remain in widespread use for the treatment of infections, in particular for tuberculosis, which is currently of epidemic proportions in South Africa, this finding has important implications for the family concerned. In addition, other South African families may potentially be at risk if they carry the same mutation.
氨基糖苷类抗生素（链霉素、庆大霉素、卡那霉素、妥布霉素、新霉素）的前庭和耳毒性作用是众所周知的；特别是链霉素，已发现会在过敏者中导致不可逆的、严重的高频感音神经性耳聋。氨基糖苷类药物的耳毒性既会散发性出现，也会在家族中发生，并且与12S核糖体RNA基因中的线粒体DNA（mtDNA）1555A到G点突变有关。我们报告了一个南非家族的分子分析情况，该家族患有链霉素诱发的感音神经性耳聋，我们在其中发现了相同的易感突变的传递。现在有可能识别出未来如果使用氨基糖苷类药物治疗就有听力损失风险的人群，并据此为他们提供咨询。鉴于氨基糖苷类抗生素仍广泛用于治疗感染，特别是用于治疗在南非目前呈流行态势的结核病，这一发现对相关家族具有重要意义。此外，其他南非家族如果携带相同突变，可能也有潜在风险。
