Diseases of DNA Repair

Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‑like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.

Table of contents
1. Triple‑A Syndrome Vijaya Sarathi and Nalini S. Shah Abstract Introduction Epidemiology Etiology Pathology Diagnosis Differential Diagnosis Treatment Conclusion 2. Amyotrophic Lateral Sclerosis J. Jefferson P. Perry, David S. Shin and John A. Tainer Abstract Introduction Clinical Features Genetic Basis and the Molecular Mechanism of the Disease Cu,ZnSOD TDP‑43 FUS/TLS Conclusion 3. Early‑Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia 1 Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi and Osamu Onodera Abstract Introduction Epidemiology Genetics of EAOH/AOA1 Clinical Features Pathogenesis Conclusion 4. Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA Michelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaro and Gabriele Siciliano Abstract Alzheimer’s Disease Mitochondrial Structure and Function Oxidative Stress and Mitochondrial Dysfunction in AD The Role of Mitochondrial DNA Conclusion 5. Huntington’s Disease Emmanuel Roze, Cecilia Bonnet, Sandrine Betuing and Jocelyne Caboche Abstract History Clinical Aspects Genetic Aspects Neuropathology Molecular Mechanisms Conclusion 6. Clinical Features and MolecularMechanisms of Spinal and Bulbar Muscular Atrophy (SBMA) Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Fumiaki Tanaka and Gen Sobue Abstract Clinical Features Genetic Basis Histopathology Molecular Mechanisms Therapeutic Strategies Conclusion 7. Spinocerebellar Ataxia with Axonal Neuropathy Cheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A.M. Salih, Hiroshi Takashima and Cornelius F. Boerkoel Abstract Introduction Symptoms of SCAN1 Genetic Basis of SCAN1 Tdp1 Function Molecular Basis of SCAN1 Current and Future Research Conclusion 8. Tuberous Sclerosis Complex and DNA Repair Samy L. Habib Abstract Introduction: Clinical Manifestations of TSC Disease Renal Lesions in TSC‑Deficient Mammals TSC1 and TSC2 Genes TSC Genes and Cell Signals TSC and DNA Damage/Repair Pathway TSC2 Regulates DNA Damage/Repair Pathway Conclusion 9. Hereditary Photodermatoses Dennis H. Oh and Graciela Spivak Abstract Introduction Metabolic Photodermatoses Hereditary Photodermatoses of Unknown Etiology or Pathogenesis Defects in Cancer Suppressor Genes Human Syndromes Defective in DNA Repair UV‑Sensitive Syndrome (UVSS) Conclusion 10. Trichothiodystrophy: Photosensitive, TTD‑P, TTD, Ta y Syndrome W. Clark Lambert, Claude E. Gagna and Muriel W. Lambert Abstract Clinical Manifestations Xeroderma Pigmentosum/Trichothiodystrophy Overlap Syndrome Cockayne Syndrome/Trichothiodystrophy Overlap Syndrome Etiopathogenesis Laboratory Diagnosis Animal Model Conclusion 11. Cornelia de Lange Syndrome Jinglan Liu and Gareth Baynam Abstract Clinical Characteristics Molecular Genetics of CdLS Conclusion 12. Rectal Cancer and Importance of Chemoradiation in the Treatment Sergio Huerta Abstract Introduction Rectal Cancer: Metastasis and Survival Rates Mechanisms of Cell Death By Ionizing Radiation Mechanisms of Resistance to Radiation in Rectal Cancer Proliferation Markers and Mitotic Index (Ki‑67) p53, p21 and p27 and Apoptotic Index (AI) Apoptosis NFκB Inhibitors of Apoptosis (IAPs: Survivin) Conclusion 13. Familial Cutaneous Melanoma Johan Hansson Abstract Introduction Risk Factors for Melanoma Familial Melanoma—The Clinical Picture Molecular Genetics of Familial Cutaneous Melanoma High Risk Melanoma Genes Candidate Loci for Novel Genes Predisposing to Familial CM Risk of Melanoma and Other Cancers in Melanoma Families with Germline CDKN2A Mutations Genetic Testing in Familial Melanoma Management of Familial Melanoma Primary Prevention Secondary Prevention of CM Pancreatic Carcinoma Surveillance Conclusion 14. Primary Immunodeficiency Syndromes Mary A. Slatter and Andrew R. Gennery Abstract Introduction Role of DNA Repair Proteins in Adaptive Immunity Genetic Defects Associated with Primary Immunodeficiency Syndromes Treatment Conclusion 15. Inherited Defects of Immunoglobulin Class Switch Recombination Sven Kracker, Pauline Gardës and Anne Durandy Abstract Introduction CSR Deficiency Caused by Activation‑Induced Cytidine Deaminase (AID)‑Defect CSR Deficiency Caused by Uracil‑N Glycosylase (UNG)‑Defect CSR Deficiency Caused by Post‑Meiotic Segregation 2 (PMS2) Defect CSR‑Deficiency in Molecularly Defined Syndromes Affecting the DNA Repair Machinery Conclusion 16. Ligase IV Syndrome Dimitry A. Chistiakov Abstract Ligase IV Syndrome: Clinical Features DNA Ligase IV Is a Component of Nonhomologous End‑Joining Pathway of DNA Repair DNA Ligase IV: Structure and Function Animal Models with Genetic Defects in Lig4 Ligase IV Mutations Causing LIG4 Syndrome in Humans LIG4 Mutations Associated with Severe Combined Immunodeficiency Conclusion 17. Muir‑Torre Syndrome Pedro Mercader Abstract Introduction Histopathology Conclusion 18. Wilms’ Tumor Carlos H. Martínez, Sumit Dave and Jonathan Izawa Abstract Introduction Epidemiology Genetic Basis and the Molecular Mechanism of the Disease Wilms’ Tumor Associated Syndromes Histopathology Clinical Features Imaging Studies Staging Treatment Bilateral Wilms’ Tumor Adult Wilms’ Tumor Conclusion 19. Cerebro‑Oculo‑Fa cio‑Skeletal Syndrome Hiroshi Suzumura and Osamu Arisaka Abstract Introduction Clinical Features Prognosis Differential Diagnosis Conclusion 20. Dyskeratosis Congenita Vineeta Gupta and Akash Kumar Abstract Introduction Clinical Features Genetics of DC Genetic Defects Immunological Abnormalities Treatment Prognosis and Outcome Conclusion 21. Retinoblastoma Dietmar Lohmann Abstract Clinical Aspects Second Cancers in Patients with Hereditary Rb Molecular Genetics Phenotypic Consequences of RB1 Gene Mutations Conclusion 22. Von Hippel Lindau Syndrome Jenny J. Kim, Brian I. Rini and Donna E. Hansel Abstract Genetic Basis and Molecular Mechanism of VHLS Clinical Features Conclusion Index

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