Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome
文献类型：期刊论文
| 作者 | Xu, Bing3; Li, Xiyuan1,2; Du, Miaomiao3; Zhou, Chao3; Fang, Hezhi3; Lyu, Jianxin3; Yang, Yanling2 |
| 刊名 | JOURNAL OF HUMAN GENETICS
 |
| 出版日期 | 2017-02-01 |
| 卷号 | 62期号:2页码:291-297 |
| ISSN号 | 1434-5161 |
| DOI | 10.1038/jhg.2016.127 |
| 英文摘要 | By using next-generation sequencing targeted to MitoExome including the entire mtDNA and exons of 1033 genes encoding the mitochondrial proteome, we described here a novel m. 11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m. 11240C>T were detected in blood, urinary epithelium, oral mucosal epithelium cells, and skin fibroblasts of the patient. Decreased mitochondrial complex I activity was found in transmitochondrial cybrids containing the m. 11240C>T mutation with biochemical analysis. Furthermore, functional investigations confirmed that mitochondria with the m. 11240C>T variant exhibited lower adenosine triphosphate-related mitochondrial respiration. However, complex I assembly in mutant cybrids was not affected. While this mutation was located in the fourth hydrophobic transmembrane region of ND4 gene, we suggested that mutation of m. 11240C>T might impair the proton pumping channel of complex I but had little effect on the complex I assembly. In conclusion, we identified m. 11240C>T as a novel mitochondrial disease-related mtDNA mutation. |
| 资助项目 | Zhejiang Provincial Natural Science foundation of China[LQ15H070005] ; Key Science and Technology Innovation Team of Zhejiang Province[2010R50048] ; Chinese National Science Foundation[81471097] ; Start Foundation of Wenzhou Medical University |
| WOS研究方向 | Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000394087600022 |
| 出版者 | NATURE PUBLISHING GROUP |
| 源URL | [http://119.78.100.204/handle/2XEOYT63/7126]  |
| 专题 | 中国科学院计算技术研究所期刊论文_英文 |
| 通讯作者 | Fang, Hezhi; Lyu, Jianxin; Yang, Yanling |
| 作者单位 | 1.Chinese Acad Sci, Inst Comp Technol, Beijing, Peoples R China 2.Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China 3.Wenzhou Med Univ, Coll Lab Med & Life Sci, Zhejiang Prov Key Lab Med Genet, Key Lab Lab Med,Minist Educ, Wenzhou, Zhejiang, Peoples R China |
| 推荐引用方式 GB/T 7714 | Xu, Bing,Li, Xiyuan,Du, Miaomiao,et al. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome[J]. JOURNAL OF HUMAN GENETICS,2017,62(2):291-297. |
| APA | Xu, Bing.,Li, Xiyuan.,Du, Miaomiao.,Zhou, Chao.,Fang, Hezhi.,...&Yang, Yanling.(2017).Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.JOURNAL OF HUMAN GENETICS,62(2),291-297. |
| MLA | Xu, Bing,et al."Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome".JOURNAL OF HUMAN GENETICS 62.2(2017):291-297. |
入库方式： OAI收割
来源：计算技术研究所
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