Oxidative Phosphorylation in Health and Disease PDF
Preview Oxidative Phosphorylation in Health and Disease
MEDICAL INTELUGENCE UNIT Oxidative Phosphorylation in Health and Disease Jan AM. Smeitink, M.D., Ph.D. Rob C.A. Sengers, M.D., Ph.D. J.M. Frans Trijbels, Ph.D. Nijmegen Center for Mitochondrial Disorders University Medical Center Nijmegen Department of Pediatrics Nijmegen, The Netherlands LANDES BIOSCIENCE / EuREKAH.coM KLUWER ACAEMIC / PLENUM PUBLISHERS GEORGETOWN, TEXAS NEW YORK, NEW YORK U S A U S A OXIDATIVE PHOSPHORYLATION IN HEALTH AND DISEASE Medical Intelligence Uni t Landes Bioscience / Eurekah.com Kluwer Academic / Plenum Publishers Copyright ©2004 Eurekah.com / Kluwer Academic / Plenum Publishers All rights reserved. No part of this book may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the publisher. Printed in the U.S.A. Kluwer Academic / Plenum Publishers, 233 Spring Street, New York, New York, U.S.A. 10013 http://wvsrw.wkap.nl/ Please address all inquiries to the Publishers: Eurekah.com / Landes Bioscience, 810 South Church Street, Georgetown, Texas, U.S.A. 78626 Phone: 512/ 863 7762; FAX: 512/ 863 0081 http://www.eurekah.com http://www.landesbioscience.com ISBN: 0-306-48232-0 Oxidative Phosphorylation in Health and Disease, edited by Jan A.M. Smeitink, Rob C.A. Sengers, J.M. Frans Trijbels. Landes / Kluwer dual imprint / Landes series: Medical Intelligence Unit While the authors, editors and publisher believe that drug selection and dosage and the specifications and usage of equipment and devices, as set forth in this book, are in accord with current recommend- ations and practice at the time of publication, they make no warranty, expressed or implied, with respect to material described in this book. In view of the ongoing research, equipment development, changes in governmental regulations and the rapid accumulation of information relating to the biomedical sciences, the reader is urged to carefully review and evaluate the information provided herein. Library o f Congress Cataloging- in-Publ icat ion D a t a Oxidative phosphorylation in health and disease / [edited by] Jan A.M. Smeitink, Rob C.A. Sengers, J.M. Frans Trijbels. p. ; cm. ~ (Medical intelligence unit) Includes bibliographical references and index. ISBN 0-306-48232-0 1. Mitochondria. 2. Mitochondrial pathology. 3. Energy metab- ollain. 4. Oxidation, Physiological. 5. Phosphorylation. I. Smeitink, Jan A. M. II. Sengers, Rob C. A. III. Trijbels, J. M. Frans. IV. Series: Medical intelligence unit (Unnumbered : 2003) [DNLM: 1. Oxidative Phosphorylation. 2. Mitochondrial Diseases. QU 125 0975 2004] QH603.M5O895 2004 611'.0181-dc22 2004013658 To all patients suffering from oxidative phosphorylation disorders CONTENTS Foreword xi 1. The Human OXPHOS System: Structure, Function and Physiology 1 Immo E. Schejfler Complexes of the Electron Transport Chain 2 The ATP Synthase 15 Regulation of Oxidative Phosphorylation 19 Asembly of Electron Transport Complexes 20 2. Molecular Biology of the OXPHOS System 28 Richard C. Scarpulla mtDNA 28 Mitochondrial Inheritance 30 Replication, Transcription, RNA Procesing 30 Recombination and Repair 35 Mitochondrial Translation System 35 Bi-Genomic Expresion of the Respiratory Chain 36 3. Clinical Diagnosis of Oxidative Phosphorylation Disorders 43 Robert McFarlandy Patrick F. Chinneryy Robert W. Taylor, Andrew M. Schaefer and Douglass M. Turnhull Epidemiology of Defects of Mitochondrial Oxidation 4 Clinical Features of Patients with Defects of Mitochondrial Oxidation 46 Investigation of Suspected Mitochondrial Disease 49 4. Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders 53 Martin Lammens and Henk ter Laak Muscle Biopsy Diagnosis 53 Morphological Halmarks for Diagnosis of OXPHOS Disorders 59 Mitochondrial Changes in Muscle Biopsies without OXPHOS Disorder 65 Muscle Biopsy in OXPHOS Disorders 65 Pathological Findings in Other Organs 72 5. Biochemical Diagnosis of OXPHOS Disorders 79 J.M, Frans Trijbelsy Antoon J.M Janssen, Lambert P. van den HeuveU Rob C.A. Sengers and Jan A.M. Smeitink Examination of Body Fluids 80 Examination of Tisues 81 Biochemical Diagnostic Investigations 82 Frozen Muscle Samples 90 Complex IV (Cytochrome c Oxidase) 91 Complex V 91 Practical Guidelines for Biochemical Examinations of Muscle 92 Investigation of Fibroblasts 93 Residual Enzyme Activity 93 6. Mitochondrial DNA and OXPHOS Disorders 95 Massimo Zeviani and Valerio Carelli General Background 95 Mitochondrial Genetics 96 Sequence and Gene Organization of mtDNA 97 Mitochondrial Disorders Due to Mutations of mtDNA 10 Mutations of mtDNA 102 Large-Scale Rearangements 103 Point Mutations 107 Heteroplasmic Point Mutations 107 Other Syndromes 109 Homoplasmic mtDNA Mutations 109 Other Homoplasmic Mutations 10 Genetic Counseling I l l 7. Nuclear DNA and Oxidative Phosphorylation 17 Lambert P. van den Heuvel and Jan A.M. Smeitink Biochemistry and Molecular Biology of the OXPHOS System 18 Nuclear DNA Mutations 19 8. Cel Biological Consequences of OXPHOS Disorders 130 Werner J. H. Koopman^ Henk-Jan Visch, Sjoerd Verkaart and Peter H.G.M. Willems Mitochondrial Function in the Living Cel 130 Celular Calcium Signaling 132 Celular Consequences of OXPHOS Deficiency 139 9. Animal Models of OXPHOS Disorders 149 Nicole Hance and Nils-Goran Larsson A Drosophila Model of Mitochondrial Deafnes 150 Mouse Models of Nuclear DNA Mutations 150 Manipulation of Mitochondrial Transcription Factor A Expresion in Mice 157 Transmitochondrial Mouse Models 162 Defective Nuclear-Mitochondrial DNA Interactions Resulting in Hearing Los 16 10. Therapeutic Options in OXPHOS Disorders 170 Roh C.A. Sengers, ],M. Frans Trijbels, Carolien C.A. Boelen, Eva Morava and Jan AM. Smeitink Therapeutic Aproaches 171 Practical Aproaches 172 Future Therapies 173 Evaluation of Treatment 174 1. Prenatal Diagnostics in Oxidative Phosphorylation Disorders 176 Antoon J.M. Janssen, Letitia E.M. NierSy Lambert P. van den Heuvel Jan A.M. Smeitink, Rob CA. Sengers and J.M. Frans Trijbels Prerequisites for Offering Prenatal Diagnosis in OXPHOS Disorders 17 Tissues to Be Used for Prenatal Diagnosis in OXPHOS Disorders 180 Methods for Prenatal Diagnosis in OXPHOS Disorders 181 Results of Prenatal Diagnosis for OXPHOS Disorders in Our Center 182 General Considerations 184 12. Future Developments in the Laboratory Diagnosis of OXPHOS Disorders 187 David R. Thorhum In Vivo Asesment of OXPHOS Function 18 Minimaly Invasive Tisue Samples 18 OXPHOS Function 190 OXPHOS Constituents 192 OXPHOS Genetics 194 Prenatal Diagnosis & Prevention 195 Index 201 EDITORS Jan A.M. Smeitink, M.D., Ph.D. email: Nils-Goran Larsson Immo E. Scheffler Departments of Medical Nutrition Division of Biological Sciences and Biosciences University of California, San Diego Karolinska Institute La Jolla, California, U.S.A. Huddinge University Hospital email: Sjoerd Verkaart Peter H.G.M. Willems Department of Biochemistry Department of Biochemistry Nijmegen Center for Molecular Life Nijmegen Center for Molecular Life Sciences and Sciences Nijmegen Center for Mitochondrial University Medical Center Disorders Nijmegen, The Netherlands Department of Pediatrics email: FOREWORD = ^ - ^ = he reason I accepted to write the foreword to this fine book —and, I suspect, the reason I was asked to write it— is that I had the good Tfortune to witness and to some extent share the first steps of "mitochon- drial medicine". I remember when, as a medical student, I read with excite- ment the exemplary piece of clinical investigation in which Rolf Luft and coworkers documented that the culprit for the severe hypermetabolism that afflicted a young Swedish woman was not a dysfunction of the thyroid gland, but loose coupling of muscle mitochondria. Ten years later, as a postdoctoral fellow in neurology with Lewis P. Rowland and a guest in the laboratories of C. E Lee and Britton Chance, I struggled to isolate intact muscle mitochon- dria from the second patient with Luft disease and could hardly believe my eyes when the pen of the oxygen electrode recorder plunged afiier the addi- tion of substrates, unresponsive to ADP or oligomycin! In the intervening years, substantial morphological and biochemical evidence had been pro- vided to support the mitochondrial nature of several human diseases, as ini- tially suggested by Luft. Much of these data came from the University of Nijmegen, where, under the leadership of Rob Sengers, collaboration between basic scientists and clinicians —"translational research" as it is now called— was fostered and continues to this day. It is, therefore, historically appropriate that both the editors and several contributors of this book belong to that institution. Far from being parochial, however, the book includes experts from many countries. In the spirit of multidisciplinary collaboration that has characterized mitochondrial research from its inception —in the absence of animal mod- els, patients were of equal interest to clinical and basic scientists— this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, "practical" chapters on the useful- ness and limitations of traditional diagnostic methodologies (morphology, biochemistry, molecular genetics), and an overview of the diagnostic prom- ise of new technologies (chips, proteomics). While the unchecked —and uncheckable— hypermetabolism of Luft disease has not yet been seen more than twice, clinical heterogeneity, indeed clinical "arlequinism", characterizes mitochondrial diseases, which is hardly surprising, considering that mitochondria are present in every tissue of the body and that mitochondrial genetics is more akin to population genetics than to the more "disciplined" mendelian genetics. The diagnostic challenge often leads either to underdiagnosing ("what is this confusing clinical pre- sentation?") or to overdiagnosing ("this clinical presentation is so confusing that it must be a mitochondrial disease!"). To help clinicians avoid these extremes, the book contains critical reviews of symptoms and signs, alone or
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