Molecular Genetics Medicine (eBook)

Theodore Friedmann (Herausgeber)

eBook Download: PDF

2014 | 1. Auflage
188 Seiten
Elsevier Science (Verlag)
978-1-4832-9557-2 (ISBN)

Infos

Continuing to keep pace with progress in human molecular genetics, Volume 4 of Molecular Genetic Medicine reviews five new areas of critical importance. Chapter 1 reviews the molecular mechanisms that have beenunraveled in the pathogenesis of eye diseases. The second chapter explains the remarkable new principle if genomic imprinting, or epigenetic modification imposed by parental history. Chapter 3 describes the etiology of amyotrophic lateral sclerosis, or Lou Gehrig's Disease, as effected by superdioxide dismutase function and neuron degeneration. The fourth chapter covers the normal and aberrant functions of peroxisomes, now implicated in many diseases, most notably adrenoleukodystrophy, publicized widelyby the'cure'called Lorenzo's oil. The final chapter summarizes recombination techniques that permit functional new genetic material to be introduced into, and subsequently transmitted through, the germ line of mammalian cells. These amazing methods arehaving profound impacts on medicine and on concepts of the study of normal human development and disease.
Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment
Chronicles the continuing explosion of knowledge in molecular genetic medicine giving current approaches to understanding human illness
Documents the revolution in human and molecular genetics leading to a new field of medicine

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Continuing to keep pace with progress in human molecular genetics, Volume 4 of Molecular Genetic Medicine reviews five new areas of critical importance. Chapter 1 reviews the molecular mechanisms that have beenunraveled in the pathogenesis of eye diseases. The second chapter explains the remarkable new principle if genomic imprinting, or epigenetic modification imposed by parental history. Chapter 3 describes the etiology of amyotrophic lateral sclerosis, or Lou Gehrig's Disease, as effected by superdioxide dismutase function and neuron degeneration. The fourth chapter covers the normal and aberrant functions of peroxisomes, now implicated in many diseases, most notably adrenoleukodystrophy, publicized widelyby the"e;cure"e;called Lorenzo's oil. The final chapter summarizes recombination techniques that permit functional new genetic material to be introduced into, and subsequently transmitted through, the germ line of mammalian cells. These amazing methods arehaving profound impacts on medicine and on concepts of the study of normal human development and disease. Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment Chronicles the continuing explosion of knowledge in molecular genetic medicine giving current approaches to understanding human illness Documents the revolution in human and molecular genetics leading to a new field of medicine

Inhalt

Front Cover 1
Molecular Genetic Medicine 4
Copyright Page 5
Table of Contents 6
Contributors 10
Preface 12
Chapter 1. Molecular Genetics of Blindness 16
I. INTRODUCTION 16
II. SOME COMMON PROBLEMS ENCOUNTERED 
17 
III. THE GENETICS OF RETINITIS PIGMENTOSA 23
IV. LEBER'S HEREDITARY OPTIC NEUROPATHY 33
V. X-LINKED RETINAL DISEASES 35
VI. CONCLUDING REMARKS 43
References 45
Chapter 2. Genomic Imprinting in Humans 52
I. INTRODUCTION 52
II. MOUSE AND HUMAN IMPRINTED GENES 54
III. BECKWITH-WIEDEMANN SYNDROME 57
IV. TRIPLET REPEAT SYNDROMES 58
V. PSORIASIS VULGARIS 60
VI. HYDATIDIFORM MOLES AND OVARIAN TERATOMAS 60
VII. CANCERS 61
VIII. ANGELMAN AND PRADER-WILLI SYNDROMES 64
IX. UNIPARENTAL DISOMY 71
X. POSSIBLE MECHANISMS FOR IMPRINTING 74
XI. WHY DO EUTHERIAN MAMMALS HAVE GENOMIC IMPRINTING? 81
XII. CONCLUDING THOUGHTS 82
Aclcnowledgments 82
References 83
Chapter 3. Superoxide Dismutase, Oxygen Radical Metabolism, and Amyotrophic Lateral Sclerosis 94
I. INTRODUCTION 94
II. IDENTIFICATION OF A GENE, SOD1, MUTATED IN FAMILIAL ALS 95
III. RELATIONSHIPS OF SOD1 MUTATIONS TO ALS ETIOLOGY 98
IV. BIOCHEMISTRY OF REACTIVE OXYGEN SPECIES 101
V. TOXICITY ASSOCIATED WITH OXYGEN 103
VI. BIOLOGICALLY SIGNIFICANT SOURCES OF ROS 106
VII. MECHANISMS TO PROTECT AGAINST ROS-INDUCED DAMAGE 107
VIII. POSSIBLE MECHANISMS BY WHICH SOD1 MUTATIONS LEAD TO FALS 111
IX. REMAINING QUESTIONS 115
X. ADDITIONAL CANDIDATE GENES FOR INVOLVEMENT IN ALS 115
XI. FUTURE DIRECTIONS AND PRIORITIES 120
XII. CLINICAL AND ETHICAL CONSIDERATIONS 121
XIII. CONCUISIONS 125
References 126
Chapter 4. Protein Import Deficiencies in Human Peroxisomal Disorders 134
I. INTRODUCTION 134
II. PEROXISOME BIOGENESIS 134
III. PEROXISOMAL PROTEIN IMPORT 136
IV. BIOCHEMICAL PATHWAYS IN PEROXISOMES 141
V. HUMAN PEROXISOMAL DISORDERS 148
VI. PROTEIN IMPORT DEFICIENCIES IN HUMAN PEROXISOMAL DISORDERS 154
VII. STRATEGIES FOR THE lDENTIFICATION OF GENES INVOLVED IN HUMAN PEROXISOMAL DISORDERS 156
VIII. GENES AFFECTED IN HUMAN PEROXISOMAL DISORDERS 157
IX. PROTEIN MISSORTING AND HUMAN DISEASE 158
Acknowledgments 159
References 160
Chapter 5. Impact of Gene Targeting on Medicine 168
I. ABCs of GENE TARGETING 169
II. ENHANCEMENT OF TARGETING FREQUENCY 170
III. RECOMBINANT IDENTIFICATION 174
IV. SCOPE OF MODIFICATIONS 177
V. LIMITATIONS AND OPPORTUNITIES 178
VI. APPLICATIONS 182
Acknowledgments 188
References 189
Index 194

Produkt-Details

• Erscheint lt. Verlag: 27.11.2014
• Sprache: englisch
• Themenwelt: Sachbuch/Ratgeber ► Gesundheit / Leben / Psychologie ► Krankheiten / Heilverfahren
• Themenwelt: Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
• Themenwelt: Technik
• ISBN-10: 1-4832-9557-5 / 1483295575
• ISBN-13: 978-1-4832-9557-2 / 9781483295572