Mitochondrial DNA polymorphisms in bipolar disorder

Mitochondrial DNA polymorphisms in bipolar disorder
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DOI:
10.1016/s0165-0327(99)00173-1
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发表时间:
2001-02-01
影响因子:
6.6
通讯作者:
Kato, N
Kato, N
中科院分区:
医学2区
文献类型:
--
作者:
Kato, T;Kunugi, H;Kato, N

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背景资料:以往的研究提示双相障碍患者存在线粒体异常:(1)双亲效应在双相障碍的传播中可能起作用;(2)~(31)P磁共振波谱检测到的脑磷代谢异常;(3)线粒体脑病患者的情感障碍共病;(4)死后脑线粒体DNA(mtDNA)4977 bp缺失水平增加。我们研究了线粒体DNA多态性与双相情感障碍的关系。方法:应用单链构象多态性方法检测43例双相情感障碍患者的12个PCR片段,包括所有tRNA基因。对所有观察到的多态性进行测序。采用限制性片段长度多态性方法,对135例双相情感障碍患者和187例对照者的上述多态性进行了研究。结果:共发现28个多态性位点,其中14个为首次报道。A10398 G多态性与双相情感障碍显著相关(10398 A基因型:双相情感障碍组33.1%,对照组22.2%,P
Background: Previous studies suggested mitochondrial abnormality in bipolar disorder: (I) possible contribution of parent-of-origin effect in transmission of bipolar disorder; (2) abnormal brain phosphorus metabolism detected by phosphorus-31 magnetic resonance spectroscopy; (3) comorbidity of affective disorders in patients with mitochondrial encephalopathy; (4) increased levels of the 4977bp deletion of mitochondrial DNA (mtDNA) in the postmortem brains. We investigated mtDNA polymorphisms in association with bipolar disorder. Methods: Twelve PCR fragments including all tRNA genes were examined by the single-strand conformation polymorphism method in 43 bipolar patients. All observed polymorphisms were sequenced. Association of these polymorphisms with bipolar disorder was examined by restriction fragment length polymorphism method in 135 bipolar patients and 187 controls. Results: In total, we found 28 polymorphisms including 14 polymorphisms that have not been reported previously. The A10398G polymorphism was significantly associated with bipolar disorder (10398A genotype: 33.1% in bipolar, 22.2% in the control, P