Journal Article

Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome

Luciana Nogueira de Sousa Andrade, Jason L. Nathanson, Gene W. Yeo, Carlos Frederico Martins Menck and Alysson Renato Muotri

in Human Molecular Genetics

Volume 21, issue 17, pages 3825-3834
Published in print September 2012 | ISSN: 0964-6906
Published online June 2012 | e-ISSN: 1460-2083 | DOI:
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome

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Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this molecular pathway in a pluripotent cell and the impact of CSB mutation during human cellular development, we generated induced pluripotent stem cells (iPSCs) from CSB skin fibroblasts (CSB-iPSC). Here, we showed that the lack of functional CSB does not represent a barrier to genetic reprogramming. However, iPSCs derived from CSB patient's fibroblasts exhibited elevated cell death rate and higher reactive oxygen species (ROS) production. Moreover, these cellular phenotypes were accompanied by an up-regulation of TXNIP and TP53 transcriptional expression. Our findings suggest that CSB modulates cell viability in pluripotent stem cells, regulating the expression of TP53 and TXNIP and ROS production.

Journal Article.  5513 words.  Illustrated.

Subjects: Genetics and Genomics

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