Mitochondrial Diseases: Models and Methods PDF
Preview Mitochondrial Diseases: Models and Methods
PATRICK LESTIENNE (Ed.) Mitochondrial Diseases Springer Berlin Heidelberg New York Barcelona Hong Kong London Milan Paris Singapore Tokyo PATRICK LESTIENNE (Ed.) Mitochondrial Diseases Models and Methods With 75 Figures Springer Dr. PATRICK LESTIENNE Directeur de Recherche INSERM E 99-29 INSERM Physiologie Mitochondriale Universite Victor Segalen Bordeaux 2 146, rue Leo Saignat 33076 Bordeaux Cedex, France [email protected] The cover picture, taken by Barbara Stevens and Jane Sinclair, was donated by Bjorn Afzelius. It symbolizes heteroplasmy, which is frequently encountered in mitochondrial DNA diseases, suggesting their possible reversibility. Library of Congress Cataloging-in-Publication Data Mitochondrial diseases: models and methods I Patrick Lestienne (ed.). p. cm Includes bibliographical references and index. ISBN-13: 978-3-642-64166-4 e-ISBN-13: 978-3-642-59884-5 DOl: 10.1007/978-3-642-59884-5 I. Mitochondrial pathology-Molecular aspects. 2. Mitochondrial DNA. l. Lestienne, Patrick. RB147.5.M581999 616'.042-dc21 99-25405 CIP This work is subject to copyright. All rights reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustra tions, recitation, broadcasting, reproduction on microfIlm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. © Springer-Verlag Berlin Heidelberg 1999 Softcover reprint of the hardcover I st edition 1999 The use of general descriptive names, registered names, trademarks, etc. in this publica tion does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Production: PRO EDIT GmbH, 69126 Heidelberg, Germany Cover Design: design & production GmbH, 69126 Heidelberg, Germany Typesetting: STORCH GmbH, 97353 Wiesentheid, Germany Computer to Film: Saladruck, Berlin, Germany SPIN 10672061 3113137 -5 4 3 2 1 0 -Printed on acid-free paper Foreword For those like me who witnessed the beginning of the adventure of human mitochon drial pathology, one can only be astounded by the extent and unexpectedness of what the field has come to offer. Extent because nobody could have imagined the sheer size of the domain. Unexpectedness because hitherto it was impossible to imagine the clinical polymorphism that this pathology would represent. The starting point was clear. Initially, there was the exceptional, and for a long time unique, observation of euthyroidian hypermetabolism that Luft and colleagues analyzed remarkably in biochemical and clinical terms. Thereafter, there was the support provided by the electron microscopy studies of Afzelius, and the very first visualization of mitochondrial abnormalities. That was way back in 1958. A few years later, progress in the cytology and cytochemistry of skeletal muscle tissue was to provide the means of detecting such abnormalities by examining sections with light microscopy. The colorful term "ragged red fibers", coined by W.K. Engel, became uni versally accepted, and this typical aspect with Gomori trichrome stain was to throw light on the frequency with which these mitochondrial abnormalities could occur under pathological conditions which, until then, had remained a total mystery regard ing their mechanism: syndromes such as the ocular myopathies with their descending evolution and the oculocraniosomatic syndromes. We were at the beginning of the 1970s. At about the same time, biochemical analysis of mitochondria-enriched sub cellular fractions was becoming applicable to human muscle specimens, provided there was more material available than with a simple biopsy. The analysis of the various respiratory chain complexes then paved the way for understanding this pathology. Almost concomitantly, A. G. Engel and C. Angelini next demonstrated the possible correction of abnormalities in long-chain fatty acid degradation by the admi nistration of l-carnitine, a cofactor with a very simple structure. In that same year of 1973, Di Mauro showed how a deficiency in mitochondrial carnitine palmityl trans ferase could result in certain lipidosis and paroxystic myoglobinurias. A watershed was reached in the middle of the 1980s with the discovery of tools to explore the mitochondrial genome, which was then sequenced. The first demonstra tions of these gene alterations were made almost simultaneously in London by the team headed by J. Morgan-Hughes and in Angers by P. Lestienne and G. Ponsot. This heralded an explosion in studies on the mitochondrial cytopathies. It was already known that double affection of the central nervous and muscle was frequent in this pathology. The abbreviations MERRF and MELAS, coined by Di Mauro's team, then came to designate syndromes in which there was both central nervous and muscle VI Foreword involvement. In this way, it became clear that Leigh's syndrome, Leber's disease, and a range of cardiac, digestive, immune and endocrinal pathologies were all related to mitochondrial abnormalities. Neonatal medicine moved forward with the discovery of cytochrome oxidase deficiencies, which were frequently severe, sometimes benign and regressive. Although this list is far from complete regarding the various aspects involved in mitochondrial pathology, it is the schematic overview of the question as seen through the eyes of one pathologist. All this progress could never have been so rapid and dramatic without break throughs in pure mitochondrial biology, especially the fine structure of mitochondrial crests, the way the respiratory chain functions, the production of ATP, and the struc ture and evolution of mitochondrial DNA. Without doubt, in the future we will need to look not only at how all this progress in pure biology has had an impact on human pathology, but also at the questions that these issues raise. This sort of symbiosis is to be found in almost all sectors of neuromuscular pathology. In my opinion, such collaboration between pathologists and biologists is one of the keys to the vast progress which has been made in what is indeed a short period of time. Regarding France, special mention should be given to the driving force repre sented by the AFM and the 5-year INSERM network "Biologie Moleculaire et Patholo gie des Mitochondries Humaines". Our thanks go to those who, with the inspiration by Cecile Marsac and under the guidance of Patrick Lestienne, have collaborated on this network. Most of the authors contributing to this volume have been associated with this project. The result is testimony to the richness and depth of this network. Their combined efforts represent a further step in the understanding of mitochon drial biology, its dysfunctioning and the ways in which man may, in the near future, be able to correct these serious pathological disorders. MICHEL FARDEAU Medical and Scientific Director of the Institute of Myology Salpetriere Hospital Preface The aim of this book is to gather several aspects of mitochondrial diseases put for ward by various research teams who exchanged knowledge over the 5-year INSERM network, "Biologie Moleculaire et Pathologie des Mitochondries Humaines". We hope that this work will contribute to further progress in the understanding of the basic aspects underlying human diseases. I wish to express my thanks to the Association Fran,<aise pour la lutte contre les Myopathies (AFM), the Institut National de la Recherche et de la Sante Medicale (INSERM), the Ministere de l'Enseignement Superieur et de la Recherche, and the Fondation pour la Recherche Medicale for their support. Finally, I would like to acknowledge the contributing authors for accepting my invi tation to collaborate on this project. Special thanks are extended to Drs. C. Godinot, C. Marsac, J. P. Mazat and G. Ponsot for their advice, and the editorial team of Sprin ger-Verlag for their help in the realization of this enterprise. June 1999 PATRICK LESTIENNE Contents Introduction P. LESTIENNE 1 Organization and Expression of the Mitochondrial Genome 5 J. VEZIERS and P. LESTIENNE 2 Mitochondrial DNA Inheritance in Mammals 18 D. CASANE and M. GUERIDE 3 Molecular Basis of Mitochondrial DNA Diseases . . . . . . . . . . .. 33 P. LESTIENNE, M. F. BOUZIDI, 1. DESGUERRE, and G. PONSOT 4 Structural Studies on Human Mitochondrial tRNAs . . . . . . . . . . . .. 59 C. FLORENTZ, H. BRuLE, M. HELM, and R. GIEGE 5 Structure, Function and Pathology of Complex I . . . . . . . . . . . . . . . . .. 73 H. DUBORJAL, R. BEUGNOT, V. PROCACCIO, J. P. ISSARTEL, and J. LUNARDI 6 Complex II or Succinate: Quinone Oxidoreductase and Pathology . . •. 87 P. LESTIENNE and C. DESNUELLE 7 The bcl Complex in the Mitochondrial Respiratory Chain ................ 97 G. BRASSEUR, P. BRIVET-CHEVILLOTTE, D. LEMESLE-MEUNIER, and J.-P. DI RAGO 8 Cytochrome c Oxidase and Mitochondrial Pathology 115 A. POYAU and C. GODINOT 9 ATPase-ATPsynthase and Mitochondrial Pathology ................... 129 K. BUCHET and C. GODINOT 10 Physiology and Pathophysiology of the Mitochondrial ADP/ATP Carrier ... 143 C. FIORE, V. TREZEGUET, C. SCHWIMMER, P. Roux, F. NOEL, A. C. DIANOUX, G. J.-M. LAUQIN, G. BRAND OLIN, and P. V. VIGNAIS 11 The Normal and Pathological Structure, Function and Expression of Mitochondrial Creatine Kinase .. . . . . . . . . . . . . . . . . ...... 159 E. CLOTTES, O. MARCILLAT, M. J. VACHERON, C. LEYDIER, and C. VIAL x Contents 12 Pyruvate Dehydrogenase Deficiencies . . . . . . . . . . ... 173 C. MARSAC, D. FRAN«OIS, F. FOUQUE, and C. BENELLI 13 Electrochemical Gradient and Mitochondrial DNA in Living Cells . . . . . . . . . . . . 185 J. COPPEY, C. DURIEUX, and M. COPPEy-MOISAN 14 AH eteroplasmic Strain of O. subobscura. An Animal Model of Mitochondrial Genome Rearrangement ............... 197 S. ALZIARI, N. PETIT, E. LEFAI, F. BEZIAT, P. LECHER, S. TOURAILLE, R. DEBISE, and F. MOREL 15 Stability of the Mitochondrial Genome of Podospora anserina and Its Genetic Control 209 1. BELCOUR, A. SAINSARD-CHANET, C. JAMET-VIERNY, and M. PICARD 16 The Control of Ageing and Mitochondria ...... 229 P. LESTIENNE and J. VEZIERS 17 Roles of Mitochondria in Apoptosis .......................... 239 B. MIG NOTTE and G. KROEMER 18 The Triiodothyronine Mitochondrial Pathway ..................... 255 C. WRUTNIAK, P. ROCHARD, F. CASAS, and G. CABELLO 19 Cytoskeleton-Mitochondrial Interactions ............... 271 J.-F. LETERRIER and M. LINDEN 20 NADH Brain Determination by Micromeasurements of a Laser-Induced Fluorescence in the Rat . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 283 S. MOTTIN, P. LAPORTE, and R. CESPUGLIO 21 Allotopic Expression of Mitochondrial Genes: Further Steps in the Evolution of Eukaryotic Cells and Therapeutic Strategy ............. . . . . . . 295 C. JACQ, M. CORRAL-DEBRINSKI, and S. HERMANN-LE DENMAT 22 Import of tRNA into Yeast Mitochondria: Experimental Approaches and Possible Applications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 303 r. A. TARASSOV, N. S. ENTELIS, and R. P. MARTIN 23 The Import ofCytosolic tRNA into Plant Mitochondria . . . . . . . . . . . . . . . . . 317 1. MARECHAL-DROUARD, A. DIETRICH, A. MIREAU, N. PEETERS, and r. SMALL 24 Plant Cytoplasmic Male Sterility: AM itochondrial Pathology and Its Biotechnological Application ............. . ...... 327 S. LITVAK, M. HERNOULD, E. ZABALETA, V. BLANC, D. BEGU, r. KUREK, A. BREIMAN, X. JORDANA, A. MOURAS, and A. ARAYA 25 Histopathology of Skeletal Muscle Mitochondria ................ 343 N. B. ROMERO, M. COQUET, and H. CARRIER Contents XI 26 Enzymatic and Polarographic Measurements of the Respiratory Chain Complexes 357 M. MALGAT, T. LETELLIER, G. DURRIEU, and J.-P. MAZAT 27 Mitochondrial DNA Analysis ......... . .............. 379 P. REYNIER, Y. MALTHIERY, and P. LESTIENNE Subject Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 389
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