Książki

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.

Oxidative Phosphorylation in Health and Disease

CONTENTS Foreword 1.The Human OXPHOS System: Structure,Function and Physiology; Immo E.Scheffler.- Complexes of the Electron Transport Chain.- The ATP Synthase.- Regulation of Oxidative Phosphorylation.- Assembly of Electron Transport Complexes.- 2.Molecular Biology of the OXPHOS System; Richard C.S carpulla.- mtDNA.- Mitochondrial Inheritance.- Replication,Transcription,RNA Processing.- Recombination and Repair.- Mitochondrial Translation System.- Bi-Genomic Expression of the Respiratory Chain.- 3.Clinical Diagnosis of Oxidative Phosphorylation Disorders; Robert McFarland, Patrick F.Chinnery, Robert W.Taylor, Andrew M.Schaefer and Douglass M.Turnbull.- Epidemiology of Defects of Mitochondrial Oxidation.- Clinical Features of Patients with Defects of Mitochondrial Oxidation.- Investigation of Suspected Mitochondrial Disease.- 4.Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders; Martin Lammens and Henk ter Laak.- Muscle Biopsy Diagnosis.- Morphological Hallmarks for Diagnosis of OXPHOS Disorders.- Mitochondrial Changes in Muscle Biopsies without OXPHOS Disorder.- Muscle Biopsy in OXPHOS Disorders.- Pathological Findings in Other Organs.- 5.Biochemical Diagnosis of OXPHOS Disorders; J.M.Frans Trijbels, Antoon J.M Janssen, Lambert P.van den Heuvel, Rob C.A.Sengers and Jan A.M.Smeitink.- Examination of Body Fluids.- Examination of Tissues.- Biochemical Diagnostic Investigations.- Frozen Muscle Samples.- Complex IV (Cytochrome c Oxidase).- Complex V.- Practical Guidelines for Biochemical Examinations of Muscle.- Investigation of Fibroblasts.- Residual Enzyme Activity.- 6.Mitochondrial DNA and OXPHOS Disorders; Massimo Zeviani and Valerio Carelli.- General Background.- Mitochondrial Genetics.- Sequence and Gene Organization of mtDNA.- Mitochondrial Disorders Due to Mutations of mtDNA.- Mutations of mtDNA.- Large-Scale Rearrangements.- Point Mutations.- Heteroplasmic Point Mutations.- Other Syndromes.- Homoplasmic mtDNAMutations.- Other Homoplasmic Mutations.- Genetic Counseling.- 7.Nuclear DNA and Oxidative Phosphorylation; Lambert P.van den Heuvel and Jan A.M.Smeitink.- Biochemistry and Molecular Biology of the OXPHOS System.- Nuclear DNA Mutations.- 8.Cell Biological Consequences of OXPHOS Disorders; Werner J.H.Koopman, Henk-Jan Visch, Sjoerd Verkaart and Peter H.G.M.Willems.- Mitochondrial Function in the Living Cell.- Cellular Calcium Signalling.- Cellular Consequences of OXPHOS Deficiency.- 9.Animal Models of OXPHOS Disorders; Nicole Hance and Nils-Göran Larsson.- A Drosophila Model of Mitochondrial Deafness.- Mouse Models of Nuclear DNA Mutations.- Manipulation of Mitochondrial Transcription Factor A Expression in Mice.- Transmitochondrial Mouse Models.- Defective Nuclear-Mitochondrial DNA Interactions Resulting in Hearing Loss.- 10.Therapeutic Options in OXPHOS Disorders; Rob C.A.Sengers, J.M.Frans Trijbels, Carolien C.A.Boelen, Eva Morava and Jan A.M.Smeitink.- Therapeutic Approaches.- Practical Approaches.- Future Therapies.- Evaluation of Treatment.- 11.Prenatal Diagnostics in Oxidative Phosphorylation Disorders; Antoon J.M.Janssen, Letitia E.M.Niers, Lambert P.van den Heuvel, Jan A.M.Smeitink, Rob C.A.Sengers and J.M.Frans Trijbels.- Prerequisites for Offering Prenatal Diagnosis in OXPHOS Disorders.- Tissues to Be Used for Prenatal Diagnosis in OXPHOS Disorders.- Methods for Prenatal Diagnosis in OXPHOS Disorders.- Results of Prenatal Diagnosis for OXPHOS Disorders in Our Center.- General Considerations.- 12.Future Developments in the Laboratory Diagnosis of OXPHOS Disorders; David R.Thorburn.- In Vivo Assessment of OXPHOS Function.- Minimally Invasive Tissue Samples.- OXPHOS Function.- OXPHOS Constituents.- OXPHOS Genetics.- Prenatal Diagnosis &Prevention.-Index.