Beschreibung
InhaltsangabeCONTENTS 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 mtDNA Mutations.- 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.
Inhaltsverzeichnis
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 mtDNA Mutations.- 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.
