Value of mitochondrial 12S rRNA gene screening in prevention of drug-induced deafness in neonates

SUN Donglan; WANG Shaoxiong; ZHANG Jing; PENG Yuanyuan; QIAO Yanxia; HU Yafang; ZHANG Jing

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Medical Journal of the Chinese People Armed Police Forces ›› 2022, Vol. 33 ›› Issue (9) : 774-777.

Value of mitochondrial 12S rRNA gene screening in prevention of drug-induced deafness in neonates

SUN Donglan¹, WANG Shaoxiong¹, ZHANG Jing¹, PENG Yuanyuan¹, QIAO Yanxia², HU Yafang², ZHANG Jing¹

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Abstract

Objective To explore the necessity and feasibility of mitochondrial deafness gene screening by detecting mitochondrial 12S rRNA gene mutations in neonates.Methods Mitochondrial 12S rRNA was detected by fluorescence quantitative PCR in 46 376 neonates born in the Fourth Hospital of Shijiazhuang from December 2018 to October 2021, and the mutation sites were A1555G and C1494. The neonates with positive results were followed up for vaccination.Results A total of 94 cases of mitochondrial 12S rRNA mutations were detected in 46 376 neonates,, and the positive rate was 0.20%. Among them, 76 cases were homogeneous of A1555G, and 14 cases were heterogeneous, among which 1 case was new. At the C1494T mutation, 3 cases were homogeneous and 1 case was heterogeneous.88 cases were followed up, ranging in age from 5 to 32 months,78 cases (88.64%) were routinely vaccinated according to the age of month, and the other 10 cases were partially vaccinated. The rate of normal vaccination was 88.64%, and there was statistical difference (P<0.01).Conclusions Mitochondrial 12S rRNA gene screening can detect aminoglycoside antibiotic sensitive individuals in the early stage and avoid the occurrence of drug-induced deafness.

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newborn / 12S rRNA / deafness gene / gene mutation / vaccination

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SUN Donglan, WANG Shaoxiong, ZHANG Jing, PENG Yuanyuan, QIAO Yanxia, HU Yafang, ZHANG Jing. Value of mitochondrial 12S rRNA gene screening in prevention of drug-induced deafness in neonates[J]. Medical Journal of the Chinese People Armed Police Forces. 2022, 33(9): 774-777

References

[1] Bindu L H, Reddy P P. Genetics of aminoglycoside-induced andprelingual non-syndromic mitochondrial hearing impairment: areview[J]. Int J Audiol, 2008, 47(11):702-707.
[2] Fassad M, Desouky L, Asal S, et al. Screening for the mitochondrial A1555G mutation among Egyptian patients withnon-syndromic, sensorineural hearing loss[J]. Int J MolEpidemiol Genet, 2014, 5(4):200-204.
[3] Prezant T R, Agapian J V, Bohlman M C, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness[J]. Nat Genet, 1993, 4(3):289-294.
[4] Qian Y P, Guan M X. Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation[J]. Antimicrob Agents Chemother, 2009, 53(11):4612-4618.
[5] Fischel-Ghodsian N, Prezant T R, Chaltraw W E, et al. Mitochondrial genemuation is a significant predisposing factorin aminoglycoside ototoxicity[J]. Am J Otolarngol, 1997,18(3):173-178.
[6] del Castillo F J, Rodriguez-Ballesteros M, Martin Y, et al. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with Non-syndromic hearing loss[J]. J Med Genet, 2003, 40(8):632-636.
[7] Wang Q J, Li Q Z, Han D Y, et al. Clinical an dmolecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with themitochondrial 12SrRNAC1494T mutation[J]. BiochemBiophys Res Commun, 2006, 340(2):583-588.
[8] Zhao H, Li R H, Wang Q J, et al. Maternally inherited amino-glycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family[J]. Am J Hum Genet, 2004, 74(1):139-152.
[9] Guan M X, Fischel-Ghodsian N, Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation[J]. Hum Mol Genet, 1996, 5(7):963-971.
[10] Zhao H, Young W Y, Yan Q F, et al. Functional characterization of the mitochondrial 12SrRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss[J]. Nucleic Acid Res, 2005, 33(3):1132-1139.
[11] Guan M X, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity[J]. Hum Mol Genet, 2000, 9(12): 1787-1793.
[12] 李晓泽, 马卫平, 胡志鹏, 等. 长治地区19113例新生儿耳聋基因检测[J]. 中华耳科学杂志, 2015, 13(4): 654-657.
[13] 韩德民. 新生儿听力及耳聋基因联合筛查[J]. 中国医学文摘耳鼻咽喉科学, 2012, 27(6):290-292.
[14] 钱根才, 杨东风, 高春新, 等. 浙江省长兴县2108例新生儿耳聋基因筛查结果分析[J]. 中国药物与临床, 2019, 19(16):2738-2739.
[15] 巫静帆, 李小霞, 谭淑娟, 等. 东莞户籍33810例新生儿听力筛查联合耳聋基因检测与分析[J]. 中华耳科学杂志, 2018, 16(2):176-180.
[16] 要跟东, 李守霞, 张小芳, 等. 邯郸地区健康体检人群线粒体DNA A1555G 和C1494T突变分析[J].中国妇幼保健, 2013, 28(6):971-973.
[17] 杨晶群, 余红. 5755例新生儿GJB2、12S rRNA耳聋基因检测结果分析[J]. 中国优生与遗传杂志, 2016, 24(2):86-87.
[18] 谢文光, 关建宏, 司徒尤发,等. 遗传性耳聋易感基因及新生儿听力联合筛查的结果分析[J]. 中国医药科学, 2019, 9(10):180-186.
[19] 郑锦, 胡书君, 王俊洲, 等. 河南洛阳地区新生儿听力与耳聋基因同步筛查临床推广工作现状分析[J]. 中华耳科学杂志, 2020, 18(1):117-125.
[20] 李熙星, 张光远, 陈雨濛,等. 氨基糖苷类药物耳毒性机制及耳保护策略研究进展[J]. 中华耳科学杂志, 2021, 19(2):352-356.
[21] 卜行宽, 刘铤. 世界卫生组织预防聋和听力减退工作情况介绍[J].中华耳鼻咽喉科杂志,2000, 35: 237-239.
[22] 邓水秋, 施洪, 李孔雀. 线粒体基因突变继发性耳聋与预防接种疫苗的选择[J]. 实用预防医学, 2012, 19(4):637-638.
[23] 张朱佳子, 潘静彬, 卢莉. 线粒体12S核糖体核糖核酸基因突变儿童接种疫苗若干问题的探讨[J]. 中国疫苗和免疫, 2015, 21(2):216-222.
[24] 丁大连. 氨基糖苷类抗生素耳毒性研究. 中华耳科学杂志, 2007, 5(2):125-131.