Ashok Singh, A. Mitra, Pratibha Mishra, Ajit K Paul, Sharad Sharma, S. Rath
{"title":"散发性眼麻痹患者PEO1及线粒体基因的筛选","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":"{\"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}","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}
Screening of PEO1 and mitochondrial genes in sporadic cases of ophthalmoplegia
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.