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JCI early table of contents for April 8, 2013
Date:4/8/2013

Protecting against aging at the molecular level

High fidelity DNA replication during each cycle of cell division is required to maintain genomic stability and prevent chromosomal mutations and rearrangements that can cause disease and aging. Mutations in ATRX, a gene that encodes a protein that participates in DNA replication, are associated with X-linked mental retardation, various cancers, and developmental disorders, but the cellular functions of ATRX are still unclear. In this issue of the Journal of Clinical Investigation, researchers led by Nathalie Brub at the University of Western Ontario report on the effects of Atrx deficiency in mice. Using neural precursor cells (NPCs) from Atrx-deficient mice, Brub and colleagues found that loss of ATRX is associated with increased DNA damage. Additionally, mice lacking neural Atrx exhibited systemic endocrine dysfunction, shortened lifespans, and degenerative phenotypes similar to human premature aging disorders. These studies demonstrate that ATRX plays a critical role in maintaining the integrity of cellular DNA.

TITLE:
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced lifespan

AUTHOR CONTACT:
Nathalie G Brub
Children's Health Research Institute, The University of Western Ontario, London, ON, CAN
Phone: 519-685-8500 x 55066; Fax: 519-685-8616; E-mail: nberube@uwo.ca

View this article at: http://www.jci.org/articles/view/65634?key=d3e4230ee774cca17a25


Researchers identify transcription factors that regulate retinal vascularization

The retina is a highly vascularized tissue, but too much or too little vascularization can lead to visual impairment and diseases such as familial exudative vitreoretinopathy or macular degeneration. In this issue of the Jou
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Contact: Jillian Hurst
press_releases@the-jci.org
Journal of Clinical Investigation
Source:Eurekalert

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