The Mitochondrial tRNA(Phe) 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis

doi:10.3389/fgene.2022.814729

科研成果详情

题名	The Mitochondrial tRNA(Phe) 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis
作者	Hou, Lingling1; Hu, Cuifang 2; Ji, Lili1; Wang, Qiongdan 1; Liang, Min 1,2
发表日期	2022-05-27
发表期刊	FRONTIERS IN GENETICS 影响因子和分区
语种	英语
原始文献类型	Article
关键词	cholecystolithiasis mitochondrial tRNA mutation pedigree
其他关键词	TRANSFER-RNA MUTATIONS ; GALLSTONE DISEASE ; FREQUENCY ; RISK
摘要	In this study, we assessed three Chinese families with inherited cholecystolithiasis and conducted the clinical, genetic, and molecular characterization of these subjects. Eight of eighteen matrilineal relatives had a clinical phenotype in these three families. Sequence analysis of complete mitochondrial genomes in these probands identified the homoplasmic tRNA(Phe) 625 G > A mutation and distinct sets of mtDNA polymorphisms belonging to haplogroups H2, F4b, and M10a. The 625G > A mutation disturbed the classic G-C base-pairings at a highly conserved position 49 in the T-stem of mitochondrial tRNAs. Molecular dynamics simulation showed that the structure of tRNA(phe) with 625 G > A mutation was noticeably remodeled while compared with the isoform of the wild type. The occurrence of tRNA(Phe) 625 G > A mutation in these various genetically unrelated subjects strongly indicates that this mutation is involved in the pathogenesis of cholecystolithiasis. This is the first evidence that tRNA mutations are associated with cholecystolithiasis, and it provided more insights into the genetic mechanism of cholecystolithiasis.
资助项目	Wenzhou Medical University[Y20190475];Natural Science Foundation of China[LQ19H120004];Natural Science Foundation of Zhejiang Province[qnyc-077];
出版者	FRONTIERS MEDIA SA
出版地	LAUSANNE
ISSN	1664-8021
EISSN	1664-8021
卷号	13 页码:814729
DOI	10.3389/fgene.2022.814729
页数	9
WOS类目	Genetics & Heredity
WOS研究方向	Genetics & Heredity
WOS记录号	WOS:000811319500001
收录类别	SCIE ; SCOPUS ; PUBMED
URL	查看原文
PubMed ID	35719381
SCOPUSEID	2-s2.0-85132691419
通讯作者地址	[Liang, Min]Department of Medical Laboratory,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China
Scopus学科分类	Molecular Medicine;Genetics;Genetics (clinical)
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/148410
专题	附属第一医院检验医学院（生命科学学院、生物学实验教学中心）_Attardei线粒体研究院
通讯作者	Liang, Min
作者单位	1.Department of Medical Laboratory,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China; 2.Attardi Institute of Mitochondrial Biomedicine,Wenzhou Medical University,Wenzhou,China
第一作者单位	附属第一医院
通讯作者单位	附属第一医院
第一作者的第一单位	附属第一医院
推荐引用方式 GB/T 7714	Hou, Lingling,Hu, Cuifang,Ji, Lili,et al. The Mitochondrial tRNA(Phe) 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis[J]. FRONTIERS IN GENETICS,2022,13:814729.
APA	Hou, Lingling, Hu, Cuifang, Ji, Lili, Wang, Qiongdan, & Liang, Min. (2022). The Mitochondrial tRNA(Phe) 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis. FRONTIERS IN GENETICS, 13, 814729.
MLA	Hou, Lingling,et al."The Mitochondrial tRNA(Phe) 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis".FRONTIERS IN GENETICS 13(2022):814729.