Screening of PEO1 and mitochondrial genes in sporadic cases of ophthalmoplegia

Ashok Singh, A. Mitra, Pratibha Mishra, Ajit K Paul, Sharad Sharma, S. Rath
{"title":"Screening of PEO1 and mitochondrial genes in sporadic cases of ophthalmoplegia","authors":"Ashok Singh, A. Mitra, Pratibha Mishra, Ajit K Paul, Sharad Sharma, S. Rath","doi":"10.4103/2229-5186.108805","DOIUrl":null,"url":null,"abstract":"Aim: To screen the gene PEO1 and mitochondrial genes in sporadic cases of rare progressive external ophthalmoplegia (PEO) patients from North India. Materials and Methods: The nuclear and mitochondrial DNA was isolated from the sporadic PEO patients, and bi-directional sequencing was done in gene PEO1 and mitochondrial genes to capture the mutations relevant to the PEO disease. Results: In the present study, none of the mutations were reported in the coding region of PEO1 gene, while four mutations were observed in mtDNA genes, namely NADH dehydrogenase subunit 2 (ND2), tRNA-Trp, non-coding nucleotides (MT-NC3), and NADH dehydrogenase subunit 5 (MT-ND5). Our study revealed two novel mutations, one in tRNA-Trp and the other in ND2 gene, which may have role in sporadic cases of PEO patients. The absence of novel conserved mutation in tRNA-Trp gene was also confirmed in 110 ethnically matched controls. Conclusion: The sporadic case of PEO disease is not associated with mutations in nuclear gene PEO1 . The novel mutation in tRNA-Trp gene and ND2 mutations may have role in the disease.","PeriodicalId":10187,"journal":{"name":"Chronicles of Young Scientists","volume":"14 1","pages":"40"},"PeriodicalIF":0.0000,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chronicles of Young Scientists","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/2229-5186.108805","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Aim: To screen the gene PEO1 and mitochondrial genes in sporadic cases of rare progressive external ophthalmoplegia (PEO) patients from North India. Materials and Methods: The nuclear and mitochondrial DNA was isolated from the sporadic PEO patients, and bi-directional sequencing was done in gene PEO1 and mitochondrial genes to capture the mutations relevant to the PEO disease. Results: In the present study, none of the mutations were reported in the coding region of PEO1 gene, while four mutations were observed in mtDNA genes, namely NADH dehydrogenase subunit 2 (ND2), tRNA-Trp, non-coding nucleotides (MT-NC3), and NADH dehydrogenase subunit 5 (MT-ND5). Our study revealed two novel mutations, one in tRNA-Trp and the other in ND2 gene, which may have role in sporadic cases of PEO patients. The absence of novel conserved mutation in tRNA-Trp gene was also confirmed in 110 ethnically matched controls. Conclusion: The sporadic case of PEO disease is not associated with mutations in nuclear gene PEO1 . The novel mutation in tRNA-Trp gene and ND2 mutations may have role in the disease.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
散发性眼麻痹患者PEO1及线粒体基因的筛选
目的:筛选印度北部散发性罕见进行性外眼肌麻痹(PEO)患者的pe1基因和线粒体基因。材料与方法:分离散在PEO患者的细胞核和线粒体DNA,对PEO基因1和线粒体基因进行双向测序,捕捉与PEO疾病相关的突变。结果:本研究中,在PEO1基因编码区未发现突变,而在mtDNA基因中发现4个突变,分别是NADH脱氢酶亚基2 (ND2)、tRNA-Trp、非编码核苷酸(MT-NC3)和NADH脱氢酶亚基5 (MT-ND5)。我们的研究发现了两个新的突变,一个是tRNA-Trp基因,另一个是ND2基因,这可能在散发的PEO患者中起作用。在110个种族匹配的对照中也证实了tRNA-Trp基因不存在新的保守突变。结论:散发性PEO病与pe1核基因突变无关。tRNA-Trp基因的新突变和ND2突变可能与该病有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Periodontal status in pregnant women in comparison with non-pregnant individuals Pharmacological evaluation of anxiolytic property of aqueous root extract of Cymbopogon citratus in mice Anesthetic considerations in Townes-Brocks syndrome Formulation and optimization of mucoadhesive microemulsion containing mirtazapine for intranasal delivery Beneficial effect of extracts of Premna integrifolia root on human leucocytes and erythrocytes against hydrogen peroxide induced oxidative damage
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1