Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in Chinese
文献类型：期刊论文
| 作者 | Zhang AM1,3; Zou Y1,3; Guo XM2; Jia XY2; Zhang QJ[*]2; Yao YG[*]1 |
| 刊名 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
 |
| 出版日期 | 2009 |
| 卷号 | 386期号:2页码:392-395 |
| 关键词 | LHON mtDNA m.3635G > A Chinese |
| ISSN号 | 0006-291X |
| 通讯作者 | qingjiongzhang@yahoo.com ; ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | Leber hereditary optic neuropathy (LHON) was the first disease to be linked to the presence of a mitochondrial DNA (mtDNA) mutation. Nowadays over 95% of LHON cases are known to be caused by one of three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). Reports for other (rare) primary mutations in LHON patients are not infrequent. Among those is the mutation m.3635G>A in the MT-ND1 gene which was reported to be pathogenic in a Russian LHON family. In this study, we report on a Chinese family with clinical features of LHON but without any of the three well-known primary mutations. Analysis of the complete mitochondrial genome in the proband revealed the presence of m.3635G>A and m.6228C>T, along with a full array of other variants that suggest the haplogroup M7b1. Evolutionary analysis indicates that site 3635, but not 6228, is highly conserved in vertebrates. Protein secondary-structure modeling for the MT-ND1 protein harboring amino acid change S110N indicates that mutant m.3635G>A decreases the protein hydrophobicity. Our current observations provide further support for a pathogenic role of m.3635G>A in patients with LHON. |
| 资助信息 | This study was supported by the Hundreds-Talent Program and a special start-up grant from the Chinese Academy of Sciences (Y.-G.Y.). Q.Z. is a recipient of the National Science Fund for Distinguished Young Scholars (30725044). |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6023]  |
| 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 & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China 3.Graduate School of the Chinese Academy of Sciences, Beijing 100039, China |
| 推荐引用方式 GB/T 7714 | Zhang AM,Zou Y,Guo XM,et al. Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in Chinese[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2009,386(2):392-395. |
| APA | Zhang AM,Zou Y,Guo XM,Jia XY,Zhang QJ[*],&Yao YG[*].(2009).Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in Chinese.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,386(2),392-395. |
| MLA | Zhang AM,et al."Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in Chinese".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 386.2(2009):392-395. |
入库方式： OAI收割
来源：昆明动物研究所
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