Ebook: Oxidative Phosphorylation in Health and Disease

Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

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Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

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Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.
Content:
Front Matter....Pages i-xiv
The Human OXPHOS System....Pages 1-27
Molecular Biology of the OXPHOS System....Pages 28-42
Clinical Diagnosis of Oxidative Phosphorylation Disorders....Pages 43-52
Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders....Pages 53-78
Biochemical Diagnosis of OXPHOS Disorders....Pages 79-94
Mitochondrial DNA and OXPHOS Disorders....Pages 95-116
Nuclear DNA and Oxidative Phosphorylation....Pages 117-129
Cell Biological Consequences of OXPHOS Disorders....Pages 130-148
Animal Models of OXPHOS Disorders....Pages 149-169
Therapeutic Options in OXPHOS Disorders....Pages 170-175
Prenatal Diagnostics in Oxidative Phosphorylation Disorders....Pages 176-186
Future Developments in the Laboratory Diagnosis of OXPHOS Disorders....Pages 187-199
Back Matter....Pages 201-205

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Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.
Content:
Front Matter....Pages i-xiv
The Human OXPHOS System....Pages 1-27
Molecular Biology of the OXPHOS System....Pages 28-42
Clinical Diagnosis of Oxidative Phosphorylation Disorders....Pages 43-52
Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders....Pages 53-78
Biochemical Diagnosis of OXPHOS Disorders....Pages 79-94
Mitochondrial DNA and OXPHOS Disorders....Pages 95-116
Nuclear DNA and Oxidative Phosphorylation....Pages 117-129
Cell Biological Consequences of OXPHOS Disorders....Pages 130-148
Animal Models of OXPHOS Disorders....Pages 149-169
Therapeutic Options in OXPHOS Disorders....Pages 170-175
Prenatal Diagnostics in Oxidative Phosphorylation Disorders....Pages 176-186
Future Developments in the Laboratory Diagnosis of OXPHOS Disorders....Pages 187-199
Back Matter....Pages 201-205
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