Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?
文献类型：期刊论文
| 作者 | Zhang AM1,4; Bandelt HJ3; Yu DD1,2; Wang D1,4; Zhuang XY1; Zhang QJ[*]2; Yao YG[*]1; Jia XY2; Zhang W1,4; Li SQ2 |
| 刊名 | PLOS ONE
 |
| 出版日期 | 2011 |
| 卷号 | 6期号:10页码:e26511 |
| 通讯作者 | qingjiongzhang@yahoo.com ; ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182) of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF) gene in unrelated LHON patients. To determine the potential role of m.593T>C in LHON, we compared the frequency of this variant in 479 LHON patients with m.11778G>A, 843 patients with clinical features of LHON but without the three known primary mutations, and 2374 Han Chinese from the general populations. The frequency of m.593T>C was higher in LHON patients (14/479) than in suspected LHON subjects (12/843) or in general controls (49/2374), but the difference was not statistically significant. The overall penetrance of LHON in families with both m.11778G>A and m.593T>C (44.6%) was also substantially higher than that of families with only m.11778G>A (32.9%) (P = 0.083). Secondary structure prediction of the MT-TF gene with the wild type or m.593T>C showed that this nucleotide change decreases the free energy. Electrophoretic mobility of the MT-TF genes with the wild type or m.593T>C transcribed in vitro further confirmed the change of secondary structure in the presence of this variant. Although our results could suggest a modest synergistic effect of variant m.593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/9589]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China 3.Department of Mathematics, University of Hamburg, Hamburg, Germany 4.Graduate School of the Chinese Academy of Sciences, Beijing, China |
| 推荐引用方式 GB/T 7714 | Zhang AM,Bandelt HJ,Yu DD,et al. Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?[J]. PLOS ONE,2011,6(10):e26511. |
| APA | Zhang AM.,Bandelt HJ.,Yu DD.,Wang D.,Zhuang XY.,...&Li SQ.(2011).Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?.PLOS ONE,6(10),e26511. |
| MLA | Zhang AM,et al."Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?".PLOS ONE 6.10(2011):e26511. |
入库方式： OAI收割
来源：昆明动物研究所
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