北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 中心实验室  > 期刊论文
学科主题: 临床医学
题名:
Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity
作者: Zhang, Yanchun1; Ma, Yinan1; Bu, Dingfang1; Liu, Hui2; Xia, Changyu3; Zhang, Ying1; Zhu, Sainan4; Pan, Hong1; Pei, Pei1; Zheng, Xuefei1; Wang, Songtao1; Xu, Yufeng1; Qi, Yu1
刊名: PLOS ONE
发表日期: 2015-05-29
DOI: 10.1371/journal.pone.0128624
卷: 10, 期:5
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: SKELETAL-MUSCLE ; COMMON-DELETION ; DNA DELETION ; COPY NUMBER ; QUANTITATIVE-ANALYSIS ; COLORECTAL-CANCER ; BP DELETION ; DISORDERS ; CELLS ; DIAGNOSIS
英文摘要:

Large deletions in mitochondrial DNA (mtDNA) may be involved in the pathogenesis of mitochondrial disease. In this study, we investigated the relationship between a 4,977-bp deletion in the mitochondrial genome (Delta mtDNA(4977)) and the severity of clinical symptoms in patients with mitochondrial disease lacking known point mutations. A total of 160 patients with mitochondrial disease and 101 healthy controls were recruited for this study. The copy numbers of Delta mtDNA(4977) and wild-type mtDNA were determined by real-time quantitative PCR and analyzed using Spearman′s bivariate correlation analysis, t-tests, or one-way ANOVA. The overall Delta mtDNA(4977) copy number per cell and the proportion of mtDNA(4977) relative to the total wild-type mtDNA, increased with patient age and symptom severity. Surprisingly, the total mtDNA copy number decreased with increasing symptom severity. Our analyses revealed that increases in the proportion and total copy number of Delta mtDNA(4977) in the blood may be associated with disease severity in patients with mitochondrial dysfunction.

语种: 英语
所属项目编号: 81271256 ; 81471153 ; Z131107002213062
项目资助者: National Natural Science Foundation of China ; Beijing Municipal Science &amp ; Technology Commission
WOS记录号: WOS:000355319400099
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55952
Appears in Collections:北京大学第一临床医学院_中心实验室_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
2.Beijing Childrens Hosp, Dept Resp, Beijing 100045, Peoples R China
3.Peking Univ, Hosp 1, Dept Clin Lab, Beijing 100034, Peoples R China
4.Peking Univ, Hosp 1, Dept Biostat, Beijing 100034, Peoples R China

Recommended Citation:
Zhang, Yanchun,Ma, Yinan,Bu, Dingfang,et al. Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity[J]. PLOS ONE,2015,10(5).
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Zhang, Yanchun]'s Articles
[Ma, Yinan]'s Articles
[Bu, Dingfang]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Zhang, Yanchun]‘s Articles
[Ma, Yinan]‘s Articles
[Bu, Dingfang]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace