The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy
文献类型：期刊论文
| 作者 | Zhang AM1,2; Bi R1; Yao YG[*]1,4; Hu QX1; Fan Y1; Zhang QJ3 |
| 刊名 | Molecular Neurobiology
 |
| 出版日期 | 2016 |
| 卷号 | **期号:**页码:published online |
| 关键词 | OPA1 Suspected optic neuropathy Pathogenicity Mitochondrial dysfunction Han Chinese |
| 通讯作者 | yaoyg@mail.kiz.ac.cn |
| 英文摘要 | While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditaryoptic neuropathy (LHON), a significant proportion of them does not have mtDNA mutation and is caused by mutations in genes of the nuclear genome. In this study, we investigated whether the OPA1 gene, which is a pathogenic gene for autosomal dominant opticatrophy (ADOA), is frequently mutated in these patients. We sequenced all 29 exons of the OPA1 gene in 105 Han Chinese patientswith suspected LHON. mtDNA copy number was quantified in blood samples from patients with and without OPA1 mutation and compared to healthy controls. In silico program-affiliated prediction, evolutionary conservation analysis, and in vitro cellular assays were performed to show the potential pathogenicity of the mutations. We identified nine OPA1 mutations in eight patients; six of them are located in exons and three are located in splicing sites. Mutation c.1172T > G has not been reported before. When we combined our data with 193 reported Han Chinese patients with optic neuropathy and compared to the available data of 4327 East Asians by the Exome Aggregation Consortium (ExAC), we found a significant enrichment of potentially pathogenic OPA1 mutations in Chinesepatients. Cellular assays for OPA1 mutants c.869G > A and c.2708_2711del showed abnormalities in OPA1 isoforms, mitochondrial morphology, and cellular reactive oxygen species (ROS) level. Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by National Natural Science Foundation of China (grant number 81200725) and the Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020003). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10887]  |
| 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 ofAnimal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming InstituteofZoology,ChineseAcademyofSciences,Kunming,China 2.Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan, China 3.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China 4.CAS Center for Excellence in Brain Science and Intelligence Technology,ChineseAcademyofSciences,Shanghai200031,China |
| 推荐引用方式 GB/T 7714 | Zhang AM,Bi R,Yao YG[*],et al. The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy[J]. Molecular Neurobiology,2016,**(**):published online. |
| APA | Zhang AM,Bi R,Yao YG[*],Hu QX,Fan Y,&Zhang QJ.(2016).The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Molecular Neurobiology,**(**),published online. |
| MLA | Zhang AM,et al."The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy".Molecular Neurobiology **.**(2016):published online. |
入库方式： OAI收割
来源：昆明动物研究所
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