Molecular Mechanisms of Cockayne Syndrome (Medical Intelligence Unit (Unnumbered))

Cockayne syndrome (CS) is a rare autosomal genetic disorder that was first identified almost 62 years ago by Alfred Cockayne and was named after him. The earliest publication record (PubMed) available is a paper by Marie et al in 1958. Since then 815 research papers including excellent reviews have been published (PubMed, December 2008), yet we are a long way from fully understanding the exact molecular mechanisms of this disease. Ironically, like many other inborn genetic defects, CS is still incurable; the mean life expectancy of the patients is 12.5 years. Major milestones in the study of CS were the discovery that the patients have a defect in DNA repair, the identification of the two complementation groups CSA and CSB, and the finding that CS cells were defective in the specialized pathway of nucleotide excision repair, transcriptional-coupled repair (TCR), that removes certain lesions from actively transcribed DNA. The editor of this book (SIA) has considerable interest in this field; recent studies have revealed a number of new enzymes (unpublished data) that may be responsible for the scavenge of ROS. Our future studies might show if deficiency of any of these newly discovered enzymes (as a result of genetic mutations) may lead to the neurodegeneration and other ROS-induced diseases. We hope that this book will stimulate both experts and novice researchers in the field with excellent overview of the current status of research and pointers to future research goals. The insights gained may also be valuable for the development of new therapeutic regimens for dealing with the clinical problems raised by this rare but devastating human condition. Clinical features in Cockayne and related syndromes / Grace S. Sun and Denise W. Metry Transcription coupled repair and its defect in Cockayne syndrome / Kiyoji Tanaka and Shinsuke Ito Cockayne syndrome group B protein and chromatin structure / Maria Diget Aamann and Tinna Stevnsner Cell signalling, cell cycle defect, and apoptosis in Cockayne syndrome / Kiyotsugu Yoshida Roles of the Cockayne syndrome group B protein in processing oxidative dna damage and in protection against neurodegeneration / Meltem Muftuoglu and Vilhelm A. Bohr Structural biology of Cockayne syndrome proteins, their interactions, and insights into DNA repair mechanisms / J. Jefferson P. Perry and John A. Tainer Cockayne syndrome : its overlap with xeroderma pigmentosum and other progeroid syndromes / W. Clark Lambert ... [et al.] Molecular basis and molecular diagnosis of Cockayne syndrome / Edward G. Neilan and W. Clark Lambert Animal and yeast models of Cockayne syndrome / Shisheng Li.