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Molecular mechanisms of ataxia telangiectasia
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- Book Synopsis
- Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is between 19-25 years, due to genetic heterogeneity, the survival rate can be fairly variable. In rare cases, however, patients survive into their third decade. The longest living patient on record died at age 34 years. Although the disease may have been identified earlier, according to PubMed the first published report on AT was in 1958. These authors described the disease to be of a slowly progressive type; the patient suffered from sinopulmonary infection, which must have been due to a deficiency in the immune system, that was discovered later in AT patients. Since this publication, 4720 research papers including a number of excellent reviews have appeared (PubMed data, September, 2008). Results from these studies have provided exciting information on a multiplicity of hitherto unknown complex processes of sensing DNA damage, cell signalling, protein/protein interactions and their post-translational processing, involving activities from control of redox state to repair of double strand DNA breaks (DSB), with outcomes that include apoptosis and carcinogenesis. Despite a huge volume of research already carried out, we are still some distance away from a complete understanding of the molecular mechanisms of AT, and there is no evidence that interest in this disease is waning. Hence this book should provide both expert and novice researchers in the field with an excellent overview of the current status of research and pointers to future research goals.
- About The Author
- Shamim I. Ahmad, after obtaining his Master s degree in Botany from Patna University, Bihar, India and his PhD in Molecular Genetics from Leicester University, England, 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, genetic 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 the 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.
- Product Details
-
- ISBN
- 9781587063220
- Format
- Hardback
- Publisher
- CRC Press, (11 June 2009)
- Number of Pages
- 110
- Weight
- 317 grams
- Language
- English
- Dimensions
- 229 x 152 mm
- Series:
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