Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism.
Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism.
复制标题
外周血细胞中线粒体 DNA 拷贝数升高与儿童自闭症相关
DOI：
10.1186/s12888-015-0432-y
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发表时间：
2015-03-17
期刊：
影响因子：
4.4
通讯作者：
Tang J
中科院分区：
文献类型：
--
作者：
Chen S;Li Z;He Y;Zhang F;Li H;Liao Y;Wei Z;Wan G;Xiang X;Hu M;Xia K;Chen X;Tang J
背景多项证据表明线粒体损伤在自闭症的病理生理学中起作用。作为线粒体功能障碍最常见的生物标志物之一，线粒体DNA(MtDNA)拷贝数也与自闭症有关，但mtDNA拷贝数与自闭症的关系尚不清楚。本研究采用病例对照研究，探讨自闭症患者外周血中线粒体DNA的相对拷贝数是否与自闭症患者有关。结果自闭症儿童mtDNA相对拷贝数显著高于正常对照组(β = −0.173，P = 0.0003)。而mtDNA拷贝数与儿童孤独症的临床特征(父亲年龄、母亲年龄、发病年龄、病程长短、CARS评分、ABC评分)无明显相关性。结论孤独症患儿外周血中线粒体DNA拷贝数升高与孤独症的发生有关，提示孤独症患儿可能存在线粒体功能障碍。
BackgroundSeveral lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autism was still obscured. In this study, we performed a case–control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism.MethodsRelative mtDNA copy number in peripheral blood cells was measured by using real-time polymerase chain reaction method. The participants in this study included 78 patients with childhood autism and 83 typically developing children.ResultsWe observed children with autism had significantly elevated relative mtDNA copy number than healthy controls (Beta = −0.173, P = 0.0003). However, there were no significant correlations between mtDNA copy number and clinical features (paternal age, maternal age, age of onset, illness of duration, CARS score and ABC score) in childhood autism.ConclusionWe show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism.
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影响因子：
6.2
作者：
Napoli E;Wong S;Giulivi C
通讯作者：
Giulivi C
DOI：
10.1016/j.pathophys.2006.05.007
发表时间：
2006-08-01
期刊：
Pathophysiology : the official journal of the International Society for Pathophysiology
影响因子：
--
作者：
Chauhan, Abha;Chauhan, Ved
通讯作者：
Chauhan, Ved
影响因子：
5.3
作者：
Mengel-From, Jonas;Thinggaard, Mikael;Dalgard, Christine;Kyvik, Kirsten Ohm;Christensen, Kaare;Christiansen, Lene
通讯作者：
Christiansen, Lene
影响因子：
3.6
作者：
Frye RE;Rossignol DA
通讯作者：
Rossignol DA
血液中白细胞线粒体 DNA 拷贝数与年轻人的重度抑郁症无关
影响因子：
3.7
作者：
He Y;Tang J;Li Z;Li H;Liao Y;Tang Y;Tan L;Chen J;Xia K;Chen X
通讯作者：
Chen X