Pub Date : 2020-01-01DOI: 10.1007/978-3-319-66816-1_92-1
Amarilla B. Mandola, D. Chitayat, C. Roifman
{"title":"Roifman-Chitayat Syndrome","authors":"Amarilla B. Mandola, D. Chitayat, C. Roifman","doi":"10.1007/978-3-319-66816-1_92-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_92-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73429386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.4172/2157-7412.20.11.329
Bhatt Dk
The present review highlights the very purpose of comparing genome and protein sequences and examines critically the different types of methodologies involved in the process leading to the final results of comparison.
{"title":"A Critical Survey of Mathematical Approaches towards Genome and Protein Sequence Comparison","authors":"Bhatt Dk","doi":"10.4172/2157-7412.20.11.329","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.329","url":null,"abstract":"The present review highlights the very purpose of comparing genome and protein sequences and examines critically the different types of methodologies involved in the process leading to the final results of comparison.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"279 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80109498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.4172/2157-7412.20.11.328
Yujing Li
Any abnormality in the genome especially a condition present from birth is a genetic syndrome which is also called as congenital. Mostly the genetic syndromes are rare they occur for one in thousands or millions persons. These genetic disorders can be treated by technique called gene therapy.
{"title":"Applications of Gene Therapy in Human Health","authors":"Yujing Li","doi":"10.4172/2157-7412.20.11.328","DOIUrl":"https://doi.org/10.4172/2157-7412.20.11.328","url":null,"abstract":"Any abnormality in the genome especially a condition present from birth is a genetic syndrome which is also called as congenital. Mostly the genetic syndromes are rare they occur for one in thousands or millions persons. These genetic disorders can be treated by technique called gene therapy.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"42 1","pages":"0-1"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72681480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.4172/2157-7412.19.11.326
S. Chowdhury, M. Srivastava, N. Chowdhury
Apert’s syndrome is a very rare disease. Besides scarce features of acrocraniosynostosis, its ocular features are also predominant. Three cases, which are reported here, had typical features of the syndrome. Additionally one case of eighteen year old girl presented with meridoneal amblyopia due to excyclotropia. To our knowledge this is the first case report where fundus picture confirms presence of excyclotropia in Apert’s syndrome. Second case had corneal erosion in proptosed eyes and third case was of a 12 years girl with severe proptosis along with craniosynostosis and syndactyly of all four limbs. The purpose of this report is to show the frequency of this syndrome in Jharkhand and highlighting the orbital and facial deformities and severe syndactyly of patients.
{"title":"Excyclotropia Leading to Meridoneal Amblyopia in Apert’s Syndrome","authors":"S. Chowdhury, M. Srivastava, N. Chowdhury","doi":"10.4172/2157-7412.19.11.326","DOIUrl":"https://doi.org/10.4172/2157-7412.19.11.326","url":null,"abstract":"Apert’s syndrome is a very rare disease. Besides scarce features of acrocraniosynostosis, its ocular features are also predominant. Three cases, which are reported here, had typical features of the syndrome. Additionally one case of eighteen year old girl presented with meridoneal amblyopia due to excyclotropia. To our knowledge this is the first case report where fundus picture confirms presence of excyclotropia in Apert’s syndrome. Second case had corneal erosion in proptosed eyes and third case was of a 12 years girl with severe proptosis along with craniosynostosis and syndactyly of all four limbs. The purpose of this report is to show the frequency of this syndrome in Jharkhand and highlighting the orbital and facial deformities and severe syndactyly of patients.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"34 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75148603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-01DOI: 10.4172/2157-7412.1000324
A. Zmysłowska, M. Borowiec, E. Polakowska, Aleks, R. Lesiak, W. Młynarski
Aim: Wolfram syndrome (WFS) is an example of inherited endocrine and neurodegenerative disease due to increased ER stress with no causal treatment. WFS is an autosomal recessive syndrome caused by biallelic mutations in WFS1 gene. Some of these mutations result in premature termination codons (PTCs). Some prospects for the causal treatment of WFS patients could give a PTCs readthrough intervention. The use of ataluren (formerly PTC124) can result in bypassing the PTCs and lead to a continuation of translation. The aim of the study was to evaluate the repairing potential of ataluren in a cell model of WFS caused by PTCs. Materials and methods: Diagnosis of WFS was confirmed by Sanger sequencing of the WFS1 gene. ER stress induction (Tunicamycin; Sigma-Aldrich, Germany) with subsequently using PTC124 (Ataluren, Selleckchem, USA) were performed on fibroblasts obtained from skin biopsies of WFS patients and healthy individuals. The evaluation of ER stress induction was conducted by analysis of mRNA expression of recognized markers of the ER stress (7900HT Real Time PCR; Applied Biosystems, USA). Results: Expression of specific markers of ER stress in patients with WFS was increased after using tunicamycin, with the highest value after 8 hours of the ER stress induction. The highest increase in mRNA expression after application of PTC124 in combination with DMSO in relation to DMSO itself was observed for GRP78 (p=0.0013). Fold change was 3.41 ± 0.73. Conclusion: It seems that PTC124 by the ER stress increasing cannot be used as a potential causal treatment for the WFS patients
目的:Wolfram综合征(WFS)是一种遗传性内分泌和神经退行性疾病，由于内质网应激增加而没有因果治疗。WFS是由WFS1基因双等位基因突变引起的常染色体隐性综合征。其中一些突变导致过早终止密码子(ptc)。对WFS患者的因果治疗的一些前景可以通过ptc读取干预。使用ataluren(以前的PTC124)可以绕过PTCs并导致继续翻译。本研究旨在评价ataluren在ptc所致WFS细胞模型中的修复潜能。材料与方法:WFS1基因Sanger测序证实WFS的诊断。内质网应激诱导(脲霉素;Sigma-Aldrich，德国)和随后使用PTC124 (Ataluren, Selleckchem, USA)对WFS患者和健康人皮肤活检获得的成纤维细胞进行检测。通过分析内质网应激识别标记的mRNA表达情况(7900HT Real Time PCR;应用生物系统公司，美国)。结果:tunicamycin治疗后WFS患者内质网应激特异性标志物表达升高，在内质网应激诱导8小时后达到最高值。与DMSO本身相比，PTC124联合DMSO对GRP78的mRNA表达增加幅度最大(p=0.0013)。折线变化为3.41±0.73。结论:内质网应激增加PTC124不能作为WFS患者的潜在因果治疗
{"title":"Readthrough Intervention Increases ER Stress in Wolfram Syndrome","authors":"A. Zmysłowska, M. Borowiec, E. Polakowska, Aleks, R. Lesiak, W. Młynarski","doi":"10.4172/2157-7412.1000324","DOIUrl":"https://doi.org/10.4172/2157-7412.1000324","url":null,"abstract":"Aim: Wolfram syndrome (WFS) is an example of inherited endocrine and neurodegenerative disease due to increased ER stress with no causal treatment. WFS is an autosomal recessive syndrome caused by biallelic mutations in WFS1 gene. Some of these mutations result in premature termination codons (PTCs). Some prospects for the causal treatment of WFS patients could give a PTCs readthrough intervention. The use of ataluren (formerly PTC124) can result in bypassing the PTCs and lead to a continuation of translation. The aim of the study was to evaluate the repairing potential of ataluren in a cell model of WFS caused by PTCs. Materials and methods: Diagnosis of WFS was confirmed by Sanger sequencing of the WFS1 gene. ER stress induction (Tunicamycin; Sigma-Aldrich, Germany) with subsequently using PTC124 (Ataluren, Selleckchem, USA) were performed on fibroblasts obtained from skin biopsies of WFS patients and healthy individuals. The evaluation of ER stress induction was conducted by analysis of mRNA expression of recognized markers of the ER stress (7900HT Real Time PCR; Applied Biosystems, USA). Results: Expression of specific markers of ER stress in patients with WFS was increased after using tunicamycin, with the highest value after 8 hours of the ER stress induction. The highest increase in mRNA expression after application of PTC124 in combination with DMSO in relation to DMSO itself was observed for GRP78 (p=0.0013). Fold change was 3.41 ± 0.73. Conclusion: It seems that PTC124 by the ER stress increasing cannot be used as a potential causal treatment for the WFS patients","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"44 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85124750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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