机构：[1]Institute of Mental Health of the Second Xiangya Hospital of Central South University, The China National Clinical Research Center for Mental Health Disorders, National Technology Institute of Psychiatry, Key Laboratory of Psychiatry and Mental Health of Hunan Province, Changsha, Hunan 410011, China[2]Key Laboratory of AnimalModels and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China[3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China[4]Department of Psychiatry, the First Affiliated Hospital of China Medical University, Shenyang 110122, China[5]CAS Center for Excellence in Brain Science and Intelligence Technology, ChineseAcademy of Sciences, Shanghai 200031, China[6]Department of Psychiatry, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China
Although monozygotic (MZ) twins have theoretically identical nuclear DNA sequences, there may be phenotypic differences between them caused by somatic mutations and epigenetic changes affecting each genome. In this study, we collected eight families of MZ twins discordant for schizophrenia with the aim of investigating the potential role of mitochondrial DNA (mtDNA) heteroplasmy in causing the phenotypic differences between the twin pairs. Next-generation sequencing (NGS) technology was used to screen the whole mitochondrial genome of the twin pairs and their parents. The mtDNA heteroplasmy level was found to be nearly identical between the twin pairs but was distinctly different between each mother and their offspring. These results suggest that the discordance of schizophrenia between MZ twins may not be attributable to the difference in mtDNA heteroplasmy, and the high concordance of mtDNA heteroplasmy between MZ twins may indicate the relatively equal distribution of mtDNA during embryo separation of MZ twins and/or the modulation effect from the same nuclear genetic background. Furthermore, we observed an overrepresentation of heteroplasmy in noncoding regions and an elevated ratio of nonsynonymous heteroplasmy, suggesting the possible effects of a purifying selection in shaping the pattern of mtDNA heteroplasmy.
基金：
Strategic Priority Research Program (B)
of the Chinese Academy of Sciences (XDB02020003), the National
Natural Science Foundation of China (31171225, 81271484, 81471361,
and 81371480), and the National Key Basic Research and Development
Program (973) (Grant No. 2012CB517904).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类|2 区医学
小类|2 区神经科学
最新[2023]版：
大类|2 区医学
小类|2 区神经科学
第一作者：
第一作者机构：[1]Institute of Mental Health of the Second Xiangya Hospital of Central South University, The China National Clinical Research Center for Mental Health Disorders, National Technology Institute of Psychiatry, Key Laboratory of Psychiatry and Mental Health of Hunan Province, Changsha, Hunan 410011, China[6]Department of Psychiatry, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China
共同第一作者：
通讯作者：
通讯机构：[2]Key Laboratory of AnimalModels and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China[3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China[5]CAS Center for Excellence in Brain Science and Intelligence Technology, ChineseAcademy of Sciences, Shanghai 200031, China
推荐引用方式(GB/T 7714)：
Hong Li,Rui Bi,Yu Fan,et al.mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia.[J].Molecular neurobiology.2017,54(6):4343-4352.doi:10.1007/s12035-016-9996-x.
APA：
Hong Li,Rui Bi,Yu Fan,Yong Wu,Yanqing Tang...&Yong-Gang Yao.(2017).mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia..Molecular neurobiology,54,(6)
MLA：
Hong Li,et al."mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia.".Molecular neurobiology 54..6(2017):4343-4352
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