Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome

• DOI: 10.1128/mcb.01037-06
• Publication Date: 2006-12-05T01:33:43Z
• Authors: Theo G. M. F. Gor...; Ingrid van der Pl...; Renata M. C. Brandt; George A. Garinis; Harry van Steeg; Gerard van den Aa...; Gerard H. Jansen; Jan M. Ruijter; Arthur A. B. Bergen; Dirk van Norren; Jan H. J. Hoeijma...; Gijsbertus T. J. ...
• Keywords: Cockayne syndrome; Premature aging

Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical neurological impairment. functions transcription-coupled subpathway of nucleotide excision repair. This function may explain but hardly clarifies other CS symptoms. Many these, including retinopathy, are associated with premature aging. We studied eye pathology mouse model for CS. Csb(m/m) mice were hypersensitive to light developed epithelial hyperplasia squamous cell carcinomas cornea, which underscores importance photolesions mouse. In addition, we observed spontaneous loss retinal photoreceptor cells age retina, resulting 60% decrease number rods 18 months. Importantly, when (as well as Csa(-/-) mice) exposed 10 Gy ionizing radiation, noticed an increase apoptotic cells, was not wild-type animals. finding, together our observation that expression established oxidative stress marker genes is upregulated suggests (endogenous) lesions play role this CS-specific premature-aging feature supports damage theory