Molecular Mechanisms of Cockayne Syndrome

1. Auflage 2009
ISBN: 978-1-58706-321-3
Verlag: Taylor & Francis Ltd

Buch, Englisch, 130 Seiten, Format (B × H): 152 mm x 229 mm, Gewicht: 318 g

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of this book (SIA) has considerable interest in this field; recent studies have revealed a number of new enzymes (unpublished data) that may be responsible for the scavenge of ROS.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.

Autoren/Hrsg.

Ahmad, Shamim I.

Fachgebiete

• Naturwissenschaften Biowissenschaften Biowissenschaften
• Naturwissenschaften Biowissenschaften Molekularbiologie

Inhaltsverzeichnis

Preface 1. Clinical Features in Cockayne and Related Syndromes 2. Transcription-Coupled Repair and Its Defect in Cockayne Syndrome 3. Cockayne Syndrome Group B Protein and Chromatin Structure 4. Cell Signalling, Cell Cycle Defect and Apoptosis in Cockayne Syndrome 5. Roles of the Cockayne Syndrome Group B Protein in Processing Oxidative D N A Dam age and in Protection against Neurodegeneration 6. Structural Biology of Cockayne Syndrome Proteins, Their Interactions and Insights into D N A Repair Mechanisms 7. Cockayne Syndrome: Its Overlap with Xeroderma Pigmentosum and Other Progeroids 8. Molecular Basis and Molecular Diagnosis of Cockayne Syndrome 9. Animal and Yeast Models of Cockayne Syndrome

Über Autor(innen)

Shamim I. Ahmad. After obtaining his Masters Degree in Botany at Patna University, Bihar, India and his PhD in Molecular Genetics from Leicester University, England, he joined Nottingham Polytechnic as Grade 1 lecturer and subsequently promoted to SL post. Nottingham Polytechnic subsequently became Nottingham Trent University where, after serving for about 35 years, he took early retirement to spend the remaining time in writing books and full time research. For more than three decades he worked on different areas of biology including thymineless death in bacteria, generic control of nucleotide catabolism, development of anti-AIDS drugs, control of microbial infection of burns, phages of thermophilic bacteria and microbial flora of Chernobyl after nuclear accident. But his primary interest, which started 25 years ago, is DNA damage and repair, particularly near UV photolysis of biological compounds, production of reactive oxygen species and their implications on human health including skin cancer and xeroderma pigmentosum. He is also investigating photolysis of non-biological compounds such as 8-methoxypsoralen+UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia.