Membrane Transporter Diseases PDF
Preview Membrane Transporter Diseases
Membrane Transporter Diseases Membrane Tr ansporter Diseases Edited by Stefan Br 6er Australian National University Canberra, Australia and Carsten A. Wagner University of Zurich Zurich, Switzerland Springer Science+Business Media, LLC Library of Congress Cataloging-in-Publication Data Membrane transporter diseases/edited by Stefan Broer and Carsten A. Wagner. p. cm. Includes bibliographical references and index. ISBN 978-1-4613-4761-3 ISBN 978-1-4419-9023-5 (eBook) DOI 10.1007/978-1-4419-9023-5 1. Carrier proteins-Pathophysiology. 1. Broer, Stefan. II. Wagner, Carsten A. RBl13.M4672004 616.3 '9042 -dc22 2003054471 ISBN 978-1-4613-4761-3 © 2003 Springer Science+ Business Media New York Originally published by Kluwer Academic/Plenum Publishers in 2003 Softcover reprint of the hardcover 1s t edition 2003 AII rights reserved No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilm ing, recording, or otherwise, without written permission from the Publisher, with the exception of any material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work Permissions for books published in Europe: Preface Every cell and organism faces the problem of spaces, made up of the two leaflets of the lipid generating a confined space in which metabolic bilayer. The importance of traffic and signaling and anabolic reactions take place and at the across membranes is reflected by the estimate same time allowing entry and exit of metabo- that 20% of all genes in the human genome lites, ions, proteins, and signals across its bor- encode membrane proteins. A failure of any of der. Evolution has solved the problem by these proteins may have dramatic con se- generating lipid membranes that contain trans- quences for ceH function. In recent years much porters, ion channels, and receptors. In eukary- attention has been paid to diseases resulting otic cells, this problem is exacerbated by the from nonfunctional ion channels ("chan- presence of multiple organelles, which are con- nelopathies"). Not surprisingly, many of these fined spaces in their own right. Even the lipid diseases affect the excitability of cells. membrane consists of two relatively separate Transporter diseases (perhaps coined "carrier vi PREFACE diseases") are more related to metabolic dis- Each chapter is concluded by a summary, and eases, Transporters are frequently found at the most chapters also contain an overview of the beginning or the end of metabolic pathways clinical features of a particular transporter and as a result can have similar effects to disease. a missing enzyme. The pathological effect is The editors are indebted to the many people often the result of an overload or lack of a cer- who helped us in the preparation of the book. tain metabolite or ion. Thus, "carrier diseases" First of alI, we would like to thank the authors are quite different from "channelopathies" of the individual chapters for their contribu- and, in our view, deserve to be treated in a tions. In addition, many friends and colleagues comprehensive monograph. helped us with specific parts of the book. The idea of this book was bom while both Chapters have been reviewed and proofread by editors were working together in S.B.'s labora- a number of people, and we would especially tory during a 3 months leave of absence of like to thank Kiaran Kirk, Susan Howitt, C.A.w. It may have been the elegant design of Juleen Kavanaugh, Alice Kingsland, and the native Australian Joey-transporters (photo- Pauline Junankar, and also Heini Murer, Jiirg graph: from left to right c.A.w., Kangaroo with Biber, and Francois Verrey for many critic al Joey, S.B.) that finally convinced us to contact discussions. S.B. would like to thank Angelika authors for the individual chapters of the book. for her understanding and patience during the Transporters are such a diverse class of final stages of the book, and Karl-Emst Broer proteins that we decided to write introductory for valuable discussion about the term "carrier chapters to functionally related groups of trans- diseases." porters. These are aimed at more inexperienced Finally, we would like to thank Kluwer readers. Rather than providing a complete Academic Publishers and their staff for the overview of transport functions, the introduc- opportunity to publish this book. tions are specifically tailored to aid in the understanding of the individual expert chapters. Canberra and Ziirich, May 2003 Contents l. Introduction to membrane transport 1 Il. The OCTN2 carnitine transporter Stefan Broer and Carsten A. Wagner and fatty acid oxidation 161 Nieola Longo, Cristina Amat di Renal Transport of Electrolytes and San Filippo, and Marzia Pasquali Acid-Base Equivalents 12. The facilitative glucose 2. Introduction 29 transporter 2: pathophysiological Carsten A. Wagner role in mouse and human 175 3. Diseases of mutations in the Mare Foretz and Bernard Thorens SLC4AlIAEI (band 3) 13. Glucose-6-phosphate transporter: the Cl-ffiC03 exchanger 39 key to glycogen storage disease Seth L. Alper type Ib 191 4. Electrogenic N a + ffiC03 Janiee Yang Chou and Brian C. cotransporter NBC1 (SLC4A4): Mansjield proximal renal tubular acidosis 14. Heteromeric amina acid and ocular pathologies 65 transporters: cystinuria and Miehael F. Romero lysinuric protein intolerance 207 Transporters of Trace Elements and Josep Chillar6n, Joan Bertran, Biominerals and Manuel Paladn 5. Introduction 83 15. Lysosomal sialic acid transporter Carsten A. Wagner sialin (SLCI7 AS): sialic acid 6. Anion exchangers DTDST storage disease (SASD) 233 (SLC26A2), DRA (SLC26A3), Frans W. Verheijen and and Pendrin (SLC26A4) 93 Grazia M.S. Maneini Daniel Markovieh 16. Thiamine-responsive megaloblastic 7. Divalent metal transporter DMTl anemia (TRMA) syndrome: (SLCIIA2) 107 consequences of defective Miehael D. Garriek and high-affinity thiamine transport 241 Laura M. Garriek Judith C. Fleming and 8. Iron transporter ferroportin FPNl 123 Ellis J. Neufeld Antonello Pietrangelo ABC Transporters Transporters of Energy Metabolites 17. Introduction 251 and Building Blocks Stefan Broer, Wolfgang E. 9. Introduction 135 Kaminski, and Gerd Sehmitz Stefan Broer 18. Canalicular multispecific organic 10. Aspartate glutamate carrier (citrin) anion transporter ABCC2 263 deficiency 147 Morimasa Wada, Takeshi Uchiumi, Keiko Kobayashi and Takeyori Saheki and Miehihiko Kuwano viii CONTENTS 19. Phospho1ipid transporters ABC1 Transporters Involved in andABCA7 291 SignalTransduction Gerd Schmitz and Wolfgang E. 22. Introduction 341 Kaminski Stefan Broer 20. The role of ABCR (ABCA4) in 23. Molecular genetics of transporters photoreceptor cells and Stargardt for norepinephrine, dopamine, and macu1ar degeneration 301 serotonin in behaviora1 traits and Robert S. Molday and Jinhi Ahn complex diseases 349 21. Function of the transporter associated Klaus Peter Lesch and with antigen processing (TAP) in Dennis L. Murphy cellular immunity, tumor escape, 24. Inherited disorders of and virus persistence 319 Ca2+ -ATPases 365 Silke Beismann-Driemeyer Rajini Rao and Giuseppe Inesi and Robert Tampe List of contributors Jinhi Ahn Judith C. Fleming Seth Alper Marc Foretz Harvard Medical School Molecular Medicine and Renal Units Laura M. Garrick RW763 Beth Israel Deaconess Medical Center East Campus, 330 Brookline Avenue Michael D. Garrick Boston, MA 02215 State University of New York USA 140 Farber HalI, Buffalo e-mail: x UST OF CONTRIBUTORS Ftichsleinstrasse 15 Universidad Barcelona 97080 Wtirzburg Avenida Diagonal 645 Germany 08028 Barcelona e-mail: UST OF CONTRIBUTORS xi Robert Tampe PO Box 1738 Institute of Biochemistry 3000 DR Rotterdam Biocenter Frankfurt The Netherlands Goethe-University, Frankfurt e-mail:
The list of books you might like
