Jan A.M. Smeitink 
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.

Inhoudsopgave

The Human OXPHOS System.- Molecular Biology of the OXPHOS System.- Clinical Diagnosis of Oxidative Phosphorylation Disorders.- Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders.- Biochemical Diagnosis of OXPHOS Disorders.- Mitochondrial DNA and OXPHOS Disorders.- Nuclear DNA and Oxidative Phosphorylation.- Cell Biological Consequences of OXPHOS Disorders.- Animal Models of OXPHOS Disorders.- Therapeutic Options in OXPHOS Disorders.- Prenatal Diagnostics in Oxidative Phosphorylation Disorders.- Future Developments in the Laboratory Diagnosis of OXPHOS Disorders.