Mitochondrial tRNA(Thr) A15951G mutation may not be associated with Leber's Hereditary Optic Neuropathy

doi:10.3109/19401736.2015.1022763

科研成果详情

题名	Mitochondrial tRNA(Thr) A15951G mutation may not be associated with Leber's Hereditary Optic Neuropathy
作者	Zhang, Xi1; Yu, Shuaishuai2; Tu, Yunhai1; Huang, Wenjie3
发表日期	2016-12-31
发表期刊	MITOCHONDRIAL DNA PART A 影响因子和分区
语种	英语
原始文献类型	Article
关键词	A15951G mutation LHON mt-tRNA(Thr) pathogenic
其他关键词	TRANSFER-RNA MUTATIONS ; 9-BP DELETION ; DNA MUTATIONS ; CHINESE FAMILIES ; RISK-FACTOR ; DISEASE ; POLYMORPHISM ; FEATURES ; NERVE ; MTDNA
摘要	Mutation in mitochondrial DNA (mtDNA) has been found to play an important role in the pathogenesis of Leber's Hereditary Optic Neuropathy (LHON). Three primary mutations, the ND4 G11778A, ND6 T14484C, and ND1 G3460A, have been found to account more than 90% of LHON patients in many families worldwide. In addition to the mutations in genes encoding the respiratory chain complex I, reports concerning the mt-tRNA gene mutations associated with LHON have increased, some pathogenic mutations caused the failure in mt-tRNA metabolism, thereby worsened the mitochondrial dysfunction that is responsible for LHON. Recently, the A15951G mutation in mt-tRNA(Thr) gene has been reported to be a modified'' factor in increasing the penetrance and expressivity of LHON-associated ND4 G11778A mutation in three Chinese families. However, evolutionary conservation analysis of this mutation suggested a poor conservation index and the pathogenicity scoring system showed that this mutation was a neutral polymorphism.
出版者	TAYLOR & FRANCIS LTD
出版地	ABINGDON
ISSN	2470-1394
EISSN	2470-1408
卷号	27 期号:4 页码:2323-2325
DOI	10.3109/19401736.2015.1022763
页数	3
WOS类目	Genetics & Heredity
WOS研究方向	Genetics & Heredity
WOS记录号	WOS:000377956300005
收录类别	SCIE ; SCOPUS ; PUBMED
URL	查看原文
PubMed ID	26000946
SCOPUSEID	2-s2.0-85008410779
通讯作者地址	[Huang, Wenjie]The Eye Hospital of Wenzhou Medical University,Ward 3,Wenzhou,China
Scopus学科分类	Molecular Biology;Genetics
引用统计	被引频次[WOS]：0 [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/14915
专题	检验医学院（生命科学学院、生物学实验教学中心）眼视光学院（生物医学工程学院）、附属眼视光医院_三病区
通讯作者	Huang, Wenjie
作者单位	1.Department of Ophthalmic Endoscopic Surgery,The Eye Hospital of Wenzhou Medical University,Wenzhou,China; 2.School of Laboratory Medicine and Life Science,Wenzhou Medical University,Wenzhou,China; 3.The Eye Hospital of Wenzhou Medical University,Ward 3,Wenzhou,China
第一作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
通讯作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
第一作者的第一单位	眼视光学院（生物医学工程学院）、附属眼视光医院
推荐引用方式 GB/T 7714	Zhang, Xi,Yu, Shuaishuai,Tu, Yunhai,et al. Mitochondrial tRNA(Thr) A15951G mutation may not be associated with Leber's Hereditary Optic Neuropathy[J]. MITOCHONDRIAL DNA PART A,2016,27(4):2323-2325.
APA	Zhang, Xi, Yu, Shuaishuai, Tu, Yunhai, & Huang, Wenjie. (2016). Mitochondrial tRNA(Thr) A15951G mutation may not be associated with Leber's Hereditary Optic Neuropathy. MITOCHONDRIAL DNA PART A, 27(4), 2323-2325.
MLA	Zhang, Xi,et al."Mitochondrial tRNA(Thr) A15951G mutation may not be associated with Leber's Hereditary Optic Neuropathy".MITOCHONDRIAL DNA PART A 27.4(2016):2323-2325.