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学科主题: 临床医学
题名:
Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency
作者: Zhen, Xiumei1,2; Wu, Bailin2; Wang, Jian2,4; Lu, Cuiling1; Gao, Huafang2,3; Qiao, Jie1
刊名: PLOS ONE
发表日期: 2015-07-30
DOI: 10.1371/journal.pone.0132610
卷: 10, 期:7
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]: IN-VITRO ; DYSFUNCTION ; REPRODUCTION ; MECHANISMS ; INHIBITOR ; SEQUENCES ; FAILURE ; STRESS ; POOL
英文摘要:

Primary ovarian insufficiency (POI), also known as premature ovarian failure (POF), is defined as more than six months of cessation of menses before the age of 40 years, with two serum follicle stimulating hormone (FSH) levels (at least 1 month apart) falling in the menopause range. The cause of POI remains undetermined in the majority of cases, although some studies have reported increased levels of reactive oxygen species (ROS) in idiopathic POF. The role of mitochondrial DNA in the pathogenesis of POI has not been studied extensively. This aim of this study was to uncover underlying mitochondrial genetic defects in patients with POI. The entire region of the mitochondrial genome was amplified in subjects with idiopathic POI (n=63) and age-matched healthy female controls (n=63) using nine pair sets of primers, followed by screening of the mitochondrial genome using an Illumina MiSeq. We identified a total of 96 non-synonymous mitochondrial variations in POI patients and 93 non-synonymous variations in control subjects. Of these, 21 (9 in POI and 12 in control) non-synonymous variations had not been reported previously. Eight mitochondrial cytochrome coxidase 1 (MT-CO1) missense variants were identified in POI patients, whereas only four missense mutations were observed in controls. A high incidence of MT-CO1 missense variants were identified in POI patients compared with controls, and the difference between the groups was statistically significant (13/63 vs. 5/63, p=0.042). Our results show that patients with primary ovarian insufficiency exhibit an increased incidence of mitochondrial cytochrome c oxidase 1 gene mutations, suggesting that MT-CO1 gene mutation may be causal in POI.

语种: 英语
所属项目编号: Y-70538-02 ; 81300456
项目资助者: Scientific Research Foundation for the returned overseas, Peking University Third Hospital ; National Natural Science Foundation of China
WOS记录号: WOS:000358837700009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51986
Appears in Collections:北京大学第三临床医学院_生殖医学中心_期刊论文

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作者单位: 1.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Ctr Reprod Med, Beijing 100191, Peoples R China
2.Harvard Univ, Sch Med, Boston Childrens Hosp, Genet Diag Lab Med, Boston, MA 02115 USA
3.Natl Res Inst Hlth & Family Planning, Human Genet Resource Ctr, Beijing 100081, Peoples R China
4.Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai 200127, Peoples R China

Recommended Citation:
Zhen, Xiumei,Wu, Bailin,Wang, Jian,et al. Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency[J]. PLOS ONE,2015,10(7).
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