Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss

doi:10.1016/j.mito.2015.05.001

科研成果详情

题名	Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss
作者	Tang, Xiaowen1; Zheng, Jing 2; Ying, Zhengbiao 3; Cai, Zhaoyang 3; Gao, Yinglong 1; He, Zheyun 1; Yu, Han1; Yao, Juan 1; Yang, Yaling1; Wang, Hui 1; Chen, Ye 2; Guan, Min-Xin1,2
发表日期	2015-07
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 Mitochondria tRNA Mutation Incidence Spectrum
其他关键词	12S RIBOSOMAL-RNA ; POINT MUTATION ; T7511C MUTATION ; G7444A MUTATION ; A1555G MUTATION ; DNA MUTATIONS ; POSITION 7445 ; GENE ; DEAFNESS ; PRECURSOR
摘要	Mutations in the mitochondrial DNA have been associated with hearing loss. However, the prevalence and spectrum of mitochondrial tRNA mutations in hearing-impaired subjects are poorly understood. In this report, we have investigated the prevalence and spectrum of mitochondrial tRNA(Ser(UCN)) mutations in a large cohort of 2651 Han Chinese subjects with hearing loss. The clinical evaluation showed that 744 subjects (432 males and 312 females) had a history of exposure to aminoglycosides and other probands exhibited nonsyndromic hearing loss. Mutational analysis of tRNASer(UCN) gene identified 9 (8 known and 1 novel) variants. The prevalence of the known deafness-associated 75111>C, 7505T>C and 7445A>C mutations was 0.04%, 0.04% and 0.04%, respectively. Other variants were evaluated by the evolutionary conservation, allelic frequency of Chinese controls, potential structural and functional alterations and pedigree analysis. Three variants were polymorphisms, while the 7444G>A, 7471DeIG and 7496A>G variants were putative deafness-associated mutations. These putative deafness-associated variants accounted for 0.68% cases of hearing-impaired subjects in this cohort. The low penetrance of hearing loss in pedigrees carrying one of these putative deafness-associated mutations indicated that the mutation(s) is necessary but itself insufficient to produce a clinical phenotype. Other genetic or environmental factor(s) may influence the phenotypic manifestation of these tRNA(Ser(UCN)) mutations. Moreover, mtDNAs in 20 probands carrying one of the putative deafness-associated mutations were widely dispersed among 8 Eastern Asian haplogroups. In particular, the occurrences of haplogroups D4a, M22, and H2 in patients carrying the deafness-associated variants were higher than those in Chinese controls. These data further support that the mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with hearing loss. Thus, our findings may provide valuable information for the further understanding of pathophysiology and management of hearing loss. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
资助项目	National Basic Research Priorities Program of ChinaNational Basic Research Program of China [2014CB541700]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81330024, 31100903]; Zhejiang Provincial Natural Science FoundationNatural Science Foundation of Zhejiang Province [Y2110399]; 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) [R01DC007696] Funding Source: NIH RePORTER
出版者	ELSEVIER SCI LTD
出版地	OXFORD
ISSN	1567-7249
EISSN	1872-8278
卷号	23 页码:17-24
DOI	10.1016/j.mito.2015.05.001
页数	8
WOS类目	Cell Biology ; Genetics & Heredity
WOS研究方向	Cell Biology ; Genetics & Heredity
WOS记录号	WOS:000358823800003
收录类别	SCIE ; SCOPUS
URL	查看原文
PubMed ID	25968158
SCOPUSEID	2-s2.0-84929471987
通讯作者地址	[Guan, Min-Xin]Institute of Genetics,School of Medicine,Zhejiang University,Yuhangtang Road,Hangzhou, Zhejiang,310058,China
Scopus学科分类	Molecular Medicine;Molecular Biology;Cell Biology
引用统计	被引频次：15[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/16958
专题	检验医学院（生命科学学院、生物学实验教学中心）其他_附属温岭医院（温岭市第一人民医院）
通讯作者	Guan, Min-Xin
作者单位	1.Attardi Institute of Mitochondrial Biomedicine,School of Laboratory Medicine and Life Sciences,Wenzhou Medical University,Wenzhou, Zhejiang,China; 2.Institute of Genetics,School of Medicine,Zhejiang University,Hangzhou, Zhejiang,China; 3.Department of Otolaryngology,Wenling People's Hospital,Wenzhou Medical University,Wenling, Zhejiang,China
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）; Attardei线粒体研究院
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	Tang, Xiaowen,Zheng, Jing,Ying, Zhengbiao,et al. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss[J]. MITOCHONDRION,2015,23:17-24.
APA	Tang, Xiaowen., Zheng, Jing., Ying, Zhengbiao., Cai, Zhaoyang., Gao, Yinglong., ... & Guan, Min-Xin. (2015). Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. MITOCHONDRION, 23, 17-24.
MLA	Tang, Xiaowen,et al."Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss".MITOCHONDRION 23(2015):17-24.