Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia
Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia
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DOI：
10.1016/j.mito.2009.06.003
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发表时间：
2009-11-01
期刊：
影响因子：
4.4
通讯作者：
Tanaka, Masashi
中科院分区：
文献类型：
--
作者：
Ueno, Hitomi;Nishigaki, Yutaka;Tanaka, Masashi
为了验证线粒体DNA（mtDNA）变异与精神分裂症易感性有关的假设，我们对93名日本精神分裂症患者的整个mtDNA进行了测序。ATP合酶（MT-ATP 6）基因第六亚基中的三种非同义同质变体仅在患者中检测到，而在对照组中未检测到，这表明它们略有有害，因为（1）它们原始的氨基酸残基（AA）是高度保守的和（2）原始和改变的AA之间的物理化学差异相对较高。此外，我们检测到三个新的异质性变异，是潜在的致病性。虽然需要功能分析，但mtDNA中的罕见变异可能会传递精神分裂症的易感性。(C)2009年Elsevier B. V.代表线粒体研究学会。All rights reserved.
To test the hypothesis that mitochondrial DNA (mtDNA) variants contribute to the susceptibility to schizophrenia, we sequenced the entire mtDNAs from 93 Japanese schizophrenic patients. Three non-synonymous homoplasmic variants in subunit six of the ATP synthase (MT-ATP6) gene that were detected only in patients but not in controls were suggested to be slightly deleterious, because (1) their original amino acid residues (AA) were highly conserved and (2) the physicochemical differences between the original and altered AA were relatively high. In addition, we detected three novel heteroplasmic variants that were potentially pathogenic. Although functional analysis is needed, rare variants in the mtDNA may convey susceptibility to schizophrenia. (C) 2009 Elsevier B.V. on behalf of Mitochondria Research Society. All rights reserved.