Table Of ContentAngelo Azzi Zdenek Drahota Sergio Papa (Eds.)
Molecular Basis of
Membrane-Associated Diseases
With 121 Figures
Springer-Verlag Berlin Heidelberg New York
London Paris Tokyo Hong Kong
Prof. Dr. ANGELO AZZI
Institut fiir Biochemie und Molekularbiologie
Universitat Bern
BiihlstraBe 28
CH-3012 Bern
Prof. ZDENEK DRAHOTA
Institute of Physiology
Czechoslovak Academy of Sciences
Videnska 1083
CS-142 20 Praha 4
Prof. SERGIO PAPA
Institute of Medical Biochemistry
and Chemistry
University of Bari
Piazza G. Cesare
1-70124 Bari
ISBN-13: 978-3-642-74417-4 e-ISBN-13: 978-3-642-74415-0
DOl: 10.1007/978-3-642-74415-0
Library of Congress Cataloging-in-Publication Data. Molecular basis of membrane-associated diseases. Based
on a symposium held in Prague on 14-16 July 1988. Includes index. 1. Cell membranes-Abnormalities
Congresses. 2. Mitochondrial membranes-Abnormalities-Congresses. 3. Lysosomal storage diseases-Congres
ses. I. Azzi, A. (Angelo) II. Drahota, Z. III. Papa, S. [DNLM: 1. Cell Membrane-pathology-congresses.
2. Diseases-etiology-congresses. 3. Membranes-pathology-congresses. QS 532.5.M3 M718 1988] RB152.M64
1989616.0789-11270
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© Springer-Verlag Berlin Heidelberg 1989
Softcover reprint of the hardcover 1st edition 1989
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Preface
This book is a result of a symposium, held in Prague on 14-16 July 1988 under
the auspices and with support from UNESCO and the International Biomedi
cal Institute, Bari, Italy.
The topic, the role of membranes in disease, was chosen because in recent
years the field has been expanding tremendously and an even larger develop
ment is foreseen in the future.
Membranes are the common denominator of a variety of disorders, ranging
from some myopathies to cancer, from biliary cirrhosis to defects in hormone
response. Membranes are in fact such an essential, ubiquitous and at the same
time delicate structure that its alterations are not only very frequent, much
more than it has been considered until now, but also a serious origin of
disease.
The interaction-recognition phenomena, either between cells or with
ligands, such as hormones or drugs, have as a basic element the plasma
membrane. Energetic transformations are based essentially at the mitochon
drial, catabolic processes at the lysosome or peroxisome level. To conceive
these processes as separated is an oversimplification, since an interplay exists
among the different cell membranous systems. Indeed this has been one other
reason to try to bring together scientists of different but related disciplines and
the result of this effort is summarized in this book.
Some of the chapters, conceived as advanced review articles rather than
experimental papers try to give an overview of the problems of growth dif
ferentiation and controls which have to deal with the plasma membrane:
Growth factors and hormone receptors represent a fascinating world, pro
jected into the future.
A series of chapters are dedicated to a new category of diseases, based on
inherited mitochondrial alterations, and their attack by sophisticated diagnos
tic tools, ranging from magnetic resonance in vivo to molecular genetic ap
proaches.
The third focus of this book is given to the classical lysosomal and the
neoclassical peroxisomal dysfunctions: The understanding of these diseases
becomes continuously deeper and more exciting.
Although the basic knowledge, the diagnosis and the classification of
membrane-based diseases become every day more complete, the perspective
of a molecular therapy begins only now. However, it is only through basic
understanding of the elementary phenomena that a rationalization of the
present therapies and the conception of new drugs can take place.
VI Preface
This is in fact the last reason for having assembled so many outstanding
scientists and for having collected their manuscripts in this book, to offer an
interdisciplinary scientific basis to those who would like a more complete
description of the elementary biological processes of nature and to propose
solutions to correct for their possible alterations.
BerniPrahalBari, Spring 1989 ANGELO AZZI
ZDENEK DRAHOTA
SERGIO PAPA
Contents
1 Plasma Membrane and Control of CeU Growth and Differentiation
Insulin Receptor Kinase and Insulin Action
E. VAN OBBERGHEN, R. BALLOTII, Y. LE MARCHAND-BRUSTEL and
J. C. SCIMECA (With 3 Figures) . . . . . . . . . . . . . . . . . . . ... 3
Structural and Functional Aspects of Signal Transduction by Receptor
Tyrosine Kinases. Y. YARDEN ..................' . . . . 14
Nerve Growth Factor (NGF): Physiological Functions and Regulation of
Its Synthesis. D. LINDHOLM, R. HEUMANN, G. D. BORASIO and
H. THoENEN. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 22
Signal Transduction by Growth Factor Receptors
W. H. MOOLENAAR (With 3 Figures) . . . . . . . 29
Altered Regulation of Receptor-Associated Tyrosine Kinases in Human
Tumors. P.M. COMOGLIO, M.P. DI RENzo, G. GAUDINO, S. GIORDANO,
L. NALDINI and C. PONZETIO . . . . . . . . . . . . . . . . . . . . . . 35
The Role of Plasma Membrane Phospholipids in Cellular Pathology
A. STRUNECKA, J. PALECEK, L. KRPEJsovA, N.!. EL DESOUKI, P. FOLK
and J. MAcHA (With 7 Figures) . . . . . . . . . . . . . . . . . . . 53
Changes in the Structure and Function of the Red Cell Membrane
Skeleton and Hemolytic Anemias. P. JAROLlM, S.-C. LIU,
TH. L. COETZER, M. LAHAV and J. PALEK (With 1 Figure) . . . . 64
Regulation of Intracellular Ca2+ in Pancreatic Acinar Cells by
Membrane Pumps and Channels. R. L. DORMER (With 3 Figures) 71
Control of Protein Kinase C Function by Activators and Inhibitors
CH. W. MAHONEY and A. AZZI (With 2 Figures) . . . . . . . . . . 84
2 Regulation of Membrane Channels
K+ Channels: Structure, Function, Regulation, Molecular Pharmacology
and Role in Diseased States. H. BERNARDI, J.-N. BIDARD, M. FOSSET,
M. HUGUES, CH. MOURRE, H. REHM, G. ROMEY, H. SCHMID
ANTOMARCHl, H. SCHWEITZ, J. R. DE WEILLE and M. LAZDUNSKI
(With 9 Figures) ......................... 99
VIII Contents
Voltage-Dependent Calcium Channels: Structure and Regulation in
Normal and Abnormal States. M. M. HOSEY, F. C. CHANG,
C.M. O'CALLAHAN, J. PThSIENSKI, J. BARHANIN and M. LAZDUNSKI
(With 6 Figures) ........................ 112
Cell Membrane Abnormalities in Genetic Hypertension
G. BIANCHI, P. FERRARI, S. SALARDI, P. SALVATI, M. FERRANDI,
L. TORIELLI and B. R. BARBER . . . . . . . . . . . . . . . . . . 124
Transmembrane Cation Transport: An Approach to the Study of the
Molecular Basis of Hypertension. L. MAZZANTI, R. A. RABINI,
N. CESTER, C. ROMANINI and E. BERTOLI . . . . . . . . . . . . . 130
Transmembrane Ionic Fluxes in the Brain in Energy-Depleted Cells
B. K. SIESJO (With 9 Figures) . . . . . . . . . . . . . . . . . . . . 134
3 Mitochondrial Genetic Diseases
Mitochondrial Diseases. S. DIMAURO, A. LOMBES, H. NAKASE,
M. ZEVIANI, R. RIZZUTO, C. T. MORAES and E. A. SCHON 157
Mitochondrial Myopathy: Biochemical Approaches to Respiratory
Chain-Linked Electron Transfer and Energy Coupling
C.P. LEE, M.E. MARTENS, P.L. PETERSON, S.H. TSANG and
M. SCIAMANNA (With 6 Figures) . . . . . . . . . . . . . . . . . . . .. 167
Phosphorus Magnetic Resonance Spectroscopy e1p NMR) as a Tool for
in Vivo Monitoring of Mitochondrial Muscle Disorders
Z. ARGOV (With 5 Figures) . . . . . . . . . . . . . . . . . . . . . . .. 183
Cytochemical and Immunocytochemical Studies of Human
Mitochondrial Myopathies. M. A. JOHNSON (With 7 Figures) 200
Regulatory Complexity of Cytochrome c Oxidase and Its Defective
Manifestation in Mitochondrial Diseases. B. KADENBACH, F.-J. HOTHER,
U. BUGE, A. SCHLERF and M. A. JOHNSON (With 7 Figures) . . . . 216
Fibroblasts and Cytochrome c Oxidase Deficiency
D.M. GLERUM, B.H. ROBINSON and R. CAPALDI (With 2 Figures) 228
Human Cytochrome c Oxidase Deficiencies; Structural and Functional
Aspects. K. M. C. SINJORGO, A. O. MUIJSERS, H. R. SCHOLTE,
A.B.P. VAN KUILENBURG, J.J. VAN BEEUMEN, E.M. BROUWER-KELDER,
J.A. BERDEN, P.A. BOLHUIS and J.M. TAGER
(With 3 Figures) ............................. 239
4 Mitochondrial Metabolic Diseases
Brown Adipose Tissue, Diet-Induced Thermogenesis and Genetic
Obesity. T. SOUKUP, H. RAUCHovA, J. DOSOUDILovA and Z. DRAHOTA
(With 5 Figures) ............................. 257
Contents IX
Acute and Long-Term Regulation of Brown Adipose Tissue
Thermogenesis: Physiological and Pathological Implications
J. HOUSTEK, J. KOPECKY, D. JANiKovA, J. BEDNAR, M. HOLUB,
T. SOUKUP, M. MrKovA and K. VfZEK (With 7 Figures) .... .... 265
Molecular Composition, Fluidity of Membranes and Functional
Properties of Human Liver Mitochondria and Microsomes
GH. BENGA (With 3 Figures) . . . . . . . . . . . . . . . . . . . 285
Changes in Erythrocyte and Platelet Membrane Fluidity in Childhood
Obesity. G. FERRETTI, A. TANGORRA, P.L. GIORGI, M. DOTTI,
G. CURATOLA and E. BERTOLI . . . . . . . . . . . . . . . . . . . .. 303
Skeletal Muscle Mitochondria and Phospholipase Activity in Malignant
Hyperthermia. K. S. CHEAH .................... "". 309
The Antimitochondrial Antibodies (AMA) of Primary Biliary Cirrhosis
(PBC). H. BAUM and M. FUSCONI . . . . . . . . . . . . . . . . . . 323
Toxicity, Antioxidants, and Metabolism. L. PACKER (With 3 Figures). 335
5 Cancer and Energy Metabolism
Mitochondrial H+ -ATP Synthase Under Normal and Pathological
Conditions. S. PAPA, F. GUERRIERI, F. ZANOTTI and F. CAPUANO
(With 8 Figures) ......................... 347
Antitumor Effect of Drugs Interfering with Mitochondrial Biogenesis
S. KUZELA, K. LUCIAKOvA, J. KOLAROV and B.D. NELSON
(With 6 Figures) ........................... 359
6 Lysosomes and Peroxisomes in Health and Disease
The Complex of j3-Galactosidase, Neuraminidase and "Protective
Protein" in Lysosomes: Molecular Characterization of the "Protective
Protein". A. D'Azzo, N. GILLEMANS and N. GAUART (With 5 Figures) 371
The Role of Activator Proteins in Glycolipid Degradation and Storage
Diseases. E. CONZELMANN (With 3 Figures) . . . . . . . . . . . . .. 379
Solute Translocation Across the Lysosome Membrane: Physiology,
Pathology and Pharmacology. J.B. LLOYD, T. KOOISTRA, S. FORSTER,
S.J. BIRD and G.P. IVESON (With 6 Figures) . . . . . . . . . . . . 395
The Peroxisomal j3-0xidation Systems: Characteristics and (Dys)
Functions in Man. R.J.A. WANDERS, C. W. T. VAN ROERMUND,
M.J.A. VAN WULAND, R.B.H. SCHUTGENS, H. VAN DEN BOSCH and
J. M. TAGER . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 407
X Contents
Genetic Heterogeneity in Inherited Disorders with a Generalized
Impairment of Peroxisomal Functions: Visualization by
Immunofluorescence Microscopy of Peroxisome Assembly After
Somatic Cell Fusion of Complementary Cell Lines
S. BRUL, E. A. C. WIEMER, M. OOSTHUIZEN, A. WESTERVELD,
R. VAN DRIEL, A. STRIJLAND, R. B. H. SCHUTGENS, H. VAN DEN BOSCH,
R.J.A. WANDERS, A. W. SCHRAM and J.M. TAGER (With 2 Figures) 420
Subject Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 429
List of Contributors
You will find the addresses at the beginning of the respective contribution
Argov, Z 183 EI Desouki, N. I. 53
Azzi, A. 84
Ferrarfdi, M. 124
Ballotti, R. 3
Ferrari, P. 124
Barber, B. R. 124
Ferretti, G. 303
Barhanin, J. 112
Folk, P. 53
Baum, H. 323
Forster, S. 395
Bednar, J. 265
Fosset, M. 99
Benga, Gh. 285
Fusconi, M. 323
Berden, J. A. 239
Bernardi, H. 99
Bertoli, E. 130,303 Galjart, N. 371
Bianchi, G. 124 Gaudino, G. 35
Bidard, J.-N. 99 Gillemans, N. 371
Bird, S.J. 395 Giordano, S. 35
Bolhuis, P. A. 239 Giorgi, P. L. 303
Borasio, G. D. 22 Glerum, D. M. 228
Brouwer-Kelder, E. M. 239 Guerrieri, F. 347
Brul, S. 420
Biige, U. 216 Heumann, R. 22
Holub, M. 265
Capaldi, R. 228 Hosey, M.M. 112
Capuano, F. 347 Houstek, J. 265
Cester, N. 130 Hugues, M. 99
Chang, F. C. 112 Hiither, F.-J. 216
Cheah, K. S. 309
Coetzer, Th. L. 64
Iveson, G.P. 395
Comoglio, P.M. 35
Conzelmann, E. 379
Janikova, D. 265
Curatola, G. 303
Jarolim, P. 64
d' Azzo, A. 371 Johnson, M. A. 200, 216
de Weille, J.R. 99
DiMauro, S. 157 Kadenbach, B. 216
Di Renzo, M. F. 35 Kolarov, J. 359
Dormer, R. L. 71 Kooistra, T. 395
Dosoudilova, J. 257 Kopecky, J. 265
Dotti, M. 303 Krpejsova, L. 53
Drahota, Z. 257 Kuzela, S. 359
