Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

doi:10.1016/j.mito.2010.01.007

科研成果详情

题名	Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
作者	Lu, Jianxin 1; Li, Zhiyuan2; Zhu, Yi 1,2; Yang, Aifen 1; Li, Ronghua 3; Zheng, Jing 1; Cai, Qin1; Peng, Guanghua 4; Zheng, Wuwei 1; Tang, Xiaowen1; Chen, Bobei4; Chen, Jianfu2; Liao, Zhisu2; Yang, Li 3; Li, Yongyan 1; You, Junyan 1; Ding, Yu 1; Yu, Hong 1; Wang, Jindan1; Sun, Dongmei1; Zhao, Jianyue 1; Xue, Ling1; Wang, Jiying1; Guan, Min-Xin1,3,5
发表日期	2010-06
发表期刊	MITOCHONDRION 影响因子和分区
语种	英语
原始文献类型	Article
关键词	Hearing loss Aminoglycosides 12S rRNA Variants Mitochondrial Chinese
其他关键词	EXTREMELY LOW PENETRANCE ; A1555G MUTATION ; PHENOTYPIC MANIFESTATION ; C1494T MUTATION ; INHERITED SUSCEPTIBILITY ; SENSORINEURAL DEAFNESS ; CLINICAL-EVALUATION ; MOLECULAR ANALYSIS ; SEQUENCE-ANALYSIS ; SPANISH FAMILIES
摘要	In this report, we investigated the frequency and spectrum of mitochondrial 12S rRNA variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>G and 1494C>T mutations were 3.96% and 0.18%, respectively, in this cohort with nonsyndromic and aminoglycoside-induced hearing loss. Prevalence of other putative deafness-associated mutation at positions 1095 and 961 were 0.61% and 1.7% in this cohort, respectively. Furthermore, the 745A>G, 792C>T, 801A>G, 839A>G, 856A>G, 1027A>G, 1192C>T, 1192C>A, 1310C>T, 1331A>G, 1374A>G and 1452T>C variants conferred increased sensitivity to ototoxic drugs or nonsyndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this rRNA. However, other variants appeared to be polymorphisms. Moreover, 65 Chinese subjects carrying the 1555A>G mutation exhibited bilateral and sensorineural hearing loss. A wide range of severity, age-of-onset and audiometric configuration was observed among these subjects. In particular, the sloping and flat-shaped patterns were the common audiograms in individuals carrying the 1555A>G mutation. The phenotypic variability in subjects carrying these 12S rRNA mutations indicated the involvement of nuclear modifier genes, mitochondrial haplotypes, epigenetic and environmental factors in the phenotypic manifestation of these mutations. Therefore, our data demonstrated that mitochondria] 12S rRNA is the hot spot for mutations associated with aminoglycoside ototoxicity. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
资助项目	National Institute on Deafness and Other Communication DisordersUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Deafness & Other Communication Disorders (NIDCD) [RO1DC05230, RO1DC07696]; National Basic Research Priorities Program of ChinaNational Basic Research Program of China [2004CCA02200]; Ministry of Public Heath of Zhejiang Province [2006A100]; Ministry of Science and Technology of Zhejiang Province [2007G50G2090026]; Zhejiang Provincial Program for the Cultivation of High-level Innovative Health; Ministry of Science and Technology of Wenzhou City [Y20060089]; Natural Science Foundation of Zhejiang ProvinceNatural Science Foundation of Zhejiang Province [Y207307]; NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Deafness & Other Communication Disorders (NIDCD) [R01DC005230, R01DC007696] Funding Source: NIH RePORTER
出版者	ELSEVIER SCI LTD
出版地	OXFORD
ISSN	1567-7249
EISSN	1872-8278
卷号	10 期号:4 页码:380-390
DOI	10.1016/j.mito.2010.01.007
页数	11
WOS类目	Cell Biology ; Genetics & Heredity
WOS研究方向	Cell Biology ; Genetics & Heredity
WOS记录号	WOS:000278262600011
收录类别	SCIE ; PUBMED ; SCOPUS
URL	查看原文
PubMed ID	20100600
PMC记录号	PMC2874659
SCOPUSEID	2-s2.0-77952821177
通讯作者地址	[Guan, Min-Xin]Division of Human Genetics,Cincinnati Children's Hospital Medical Center,3333 Burnet Avenue,United States
Scopus学科分类	Molecular Medicine;Molecular Biology;Cell Biology
引用统计	被引频次：97[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/6346
专题	检验医学院（生命科学学院、生物学实验教学中心）第一临床医学院（信息与工程学院）、附属第一医院附属第二医院附属第一医院
通讯作者	Guan, Min-Xin
作者单位	1.Attardi Inst. of Mitochondrial Biomedicine,Zhejiang Provincial Key Laboratory of Medical Genetics,School of Life Sciences, Wenzhou Medical College,China; 2.Department of Otolaryngology,The First Affiliated Hospital,Wenzhou Medical College,China; 3.Division of Human Genetics and Center for Hearing and Deafness Research,Cincinnati Children's Hospital Medical Center,United States; 4.Department of Otolaryngology,The Second Affiliated Hospital,Wenzhou Medical College,China; 5.Deparment of Pediatrics,University of Cincinnati College of Medicine,United States
第一作者单位	检验医学院（生命科学学院、生物学实验教学中心）
第一作者的第一单位	检验医学院（生命科学学院、生物学实验教学中心）
推荐引用方式 GB/T 7714	Lu, Jianxin,Li, Zhiyuan,Zhu, Yi,et al. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss[J]. MITOCHONDRION,2010,10(4):380-390.
APA	Lu, Jianxin., Li, Zhiyuan., Zhu, Yi., Yang, Aifen., Li, Ronghua., ... & Guan, Min-Xin. (2010). Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. MITOCHONDRION, 10(4), 380-390.
MLA	Lu, Jianxin,et al."Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss".MITOCHONDRION 10.4(2010):380-390.