| Molecular Mechanisms of Cockayne Syndrome Contributor(s): Ahmad, Shamim I. (Author) |
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ISBN: 1587063212 ISBN-13: 9781587063213 Publisher: CRC Press OUR PRICE: $161.50 Product Type: Hardcover - Other Formats Published: July 2009 |
| Additional Information |
| BISAC Categories: - Medical | Diseases - Science | Life Sciences - Biology - Science | Life Sciences - Molecular Biology |
| Dewey: 616.042 |
| LCCN: 2009019070 |
| Series: Medical Intelligence Unit (Unnumbered) |
| Physical Information: 130 pages |
| Descriptions, Reviews, Etc. |
| Publisher Description: 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of this book (SIA) has considerable interest in this field; recent studies have revealed a number of new enzymes (unpublished data) that may be responsible for the scavenge of ROS.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. |