浙江省非综合征型耳聋患者12S rRNA突变频谱分析

doi:10.3724/SP.J.1005.2012.00695

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HEREDITAS ›› 2012, Vol. 34 ›› Issue (6): 695-704.doi: 10.3724/SP.J.1005.2012.00695

Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province

ZHENG Bin-Jiao¹, PENG Guang-Hua², CHEN Bo-Bei³, FANG Fang¹, ZHENG Jing¹, WU Yue¹, LIANG Ling-Zhi¹, NAN Ben-Yu³, TANG Xiao-Wen¹, ZHU Yi⁴, LU Jian-Xin¹, GUAN Min-Xin^1,5

1. Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, China 2. Department of Otolaryngology, Yuyao People’s Hospital, Ningbo 315400, China 3. Department of Otolaryngology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical College, Wenzhou 325027, China 4. Department of Otolaryngology, the First Affiliated Hospital of Wenzhou Medical College, Wenzhou 325027, China 5. College of Life Sciences, Zhejiang University, Hangzhou 310058, China

Received:2011-10-19 Revised:2011-11-28 Online:2012-06-20 Published:2012-06-25

Abstract

Abstract: Mitochondrial DNA (mtDNA) mutations are one of the important causes of deafness. In particular, the 12S rRNA gene is the hot spots for mutations associated with both aminoglycoside ototoxicity and nonsyndromic deafness. In this report, a total of 318 Chinese pediatric hearing-impaired subjects were recruited from otology clinics in the Zhejiang Province, China. These subjects underwent clinical, genetic evaluation and molecular analysis of 12S rRNA gene. Mutational analysis identified 34 variants in the 12S rRNA gene in this cohort. The incidences of the known deafness-associated 1555A>G, 1494C>T and 1095T>C mutations were 9.1%, 0.6% and 1.25% in this cohort, respectively. Other mtDNA variants were evaluated by structural and phylogenetic analysis. Of these, the 839A>G and 1452T>C variants could confer increased sensitivity to aminoglycosides or nonsyndromic deafness as they were not present in 449 Chinese controls and localized at highly conserved nucleotides of the 12S rRNA. However, other variants appeared to be polymorphisms. These data further support the idea that mitochondrial 12S rRNA is one of major targets for aminoglycoside ototoxicity. These data have been providing valuable information to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside antibiotic therapy, and eventually to decrease the incidence of deafness.

Key words: hearing loss, mitochondrial 12S rRNA gene, non-syndromic deafness, aminoglycoside antibiotics, mutation spectrum

ZHENG Bin-Jiao, PENG Guang-Hua, CHEN Bo-Bei, FANG Fang, ZHENG Jing, WU Yue, LIANG Ling-Zhi, NAN Ben-Yu, TANG Xiao-Wen, ZHU Yi, LU Jian-Xin, GUAN Min-Xin. Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province[J]. HEREDITAS, 2012, 34(6): 695-704.

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Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province

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