科研成果详情

题名Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss
作者
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
ISSN1567-7249
EISSN1872-8278
卷号23页码:17-24
DOI10.1016/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 ID25968158
SCOPUSEID2-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.

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