The Journal of genetics syndrome and gene therapy aims to disseminate knowledge and promote discussion through the publication of peer-reviewed, high quality research papers on all topics of genetics syndrome and gene therapy We are pleased to deliver the table of contents alert for Journal of genetics syndrome and gene therapy [ ISSN: 2157-7412].All the following articles are freely accessible in PDF and HTML formats.
Readthrough Intervention Increases ER Stress in Wolfram Syndrome
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.
Conclusion: It seems that PTC124 by the ER stress increasing cannot be used as a potential causal treatment for the WFS patients.
Senior Journal Coordinator
Journal of genetics syndrome and gene therapy