Friedmann Molecular Genetics Medicine

1. Auflage 2014
ISBN: 978-1-4832-9557-2
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, Band Volume 4, 188 Seiten, Web PDF

Reihe: Molecular Genetic Medicine

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

Autoren/Hrsg.

Friedmann, Theodore

Inhaltsverzeichnis

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