The role of the Cockayne syndrome protein

National Institute On Aging

Investigators

Linked publications, trials & patents

Abstract

Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegeneration, cachexia, and is a segmental premature aging disorder. Mutations in CSA and CSB predominantly cause CS. There are deficiencies in the repair of oxidative DNA damage in both nuclear and mitochondrial DNA, and this may contribute to CS disease features. Previously, we demonstrated that the CSB protein interacts with PARP1, a protein involved in the early steps of DNA damage repair, and that these two proteins cooperate in the cellular responses to oxidative stress. CS patients suffer from kidney disease, and we have ongoing studies to investigate the role of kidney disease in mouse models of CS. Loss of either CS protein, CSA or CSB, is associated with the development of CS. In the mouse, loss of either protein also contributes to development of some CS features. We have evaluated kidney histology and known protein markers for kidney pathological. These studies are ongoing and will aid in the understanding of how loss of CSA and CSB contribute to development of kidney dysfunction.