IR@PKUHSC  > 北京大学第一临床医学院  > 中心实验室
学科主题临床医学
Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity
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
2015-05-29
DOI10.1371/journal.pone.0128624
10期:5
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者National Natural Science Foundation of China ; Beijing Municipal Science &amp ; Technology Commission ; National Natural Science Foundation of China ; Beijing Municipal Science &amp ; Technology Commission
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
资助者National Natural Science Foundation of China ; Beijing Municipal Science &amp ; Technology Commission ; National Natural Science Foundation of China ; Beijing Municipal Science &amp ; Technology Commission
WOS记录号WOS:000355319400099
Citation statistics
Cited Times:3[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55952
Collection北京大学第一临床医学院_中心实验室
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
GB/T 7714
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).
APA Zhang, Yanchun.,Ma, Yinan.,Bu, Dingfang.,Liu, Hui.,Xia, Changyu.,...&Qi, Yu.(2015).Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity.PLOS ONE,10(5).
MLA Zhang, Yanchun,et al."Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity".PLOS ONE 10.5(2015).
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