Physiology of Membrane Disorders

ISBN-13: 9781461339601 / Angielski / Miękka / 2011 / 1122 str.

Thomas Andreoli

Opis

The purpose of this book is to provide the reader with a rational frame of reference for assessing the pathophysiology of those disorders in which derangements of membrane transport processes are a major factor responsible for the clinical manifestations of disease. In the present context, we use the term "membrane transport processes" in a catholic sense, to refer to those molecular processes whose cardinal function, broadly speaking, is the vectorial transfer of molecules either individually or as ensembles-across biological interfaces, the latter includ ing those interfaces which separate different intracellular compartments, the cellu lar and extracellular compartments, and secreted fluids-such as glomerular fil trate-and extracellular fluids. Evidently, consideration of these processes, and of the pathophysiology of membrane disorders, requires an understanding of the composition and structure of biomembranes, of the physical rules governing mem brane transport processes, of the way in which chemical regulators-either physio logic or pharmacologic-regulate or modify membrane transport processes, and of the ways in which these events are interpreted into specialized phenomena such as cell volume regulation, signal transmission in excitable tissues, cell-to-cell commu nication, and secretory processes in epithelia. Accordingly, Physiology of Membrane Disorders is divided into five major sections. Part 1, The Nature of Biological Membranes, provides an overview ofthe physical structure and composition of plasma membranes, and of the dynamic relations between structure and function.

Spis treści

I: The Nature of Biological Membranes.- 1: The Anatomy of Biological Interfaces.- 1. Introduction.- 2. Models of Membrane Structure.- 3. Membrane Junctions.- 4. Certain Specialized Membranes.- 5. Artificial Membrane-Protein Interactions.- 6. Membrane Fluidity.- 7. Mechanisms of Protein-Lipid Interaction.- 8. Mueller-Rudin Bilayer Membranes.- 9. Freeze-Fracture-Etch Studies of Membranes.- 10. Summary.- References.- 2: Dynamics of Lipids in Biomembranes.- 1. The Molecular Organization of Lipids in Biomembranes.- 2. Molecular Structure of Membrane Lipids.- 3. Molecular Motions in Bilayers.- 4. Interactions between Lipids in Bilayers.- 5. Summary.- References.- 3: Membrane Proteins: Structure and Arrangement in the Membrane.- 1. Introduction.- 2. Protein Composition of Membranes.- 3. Types of Membrane Proteins.- 4. Extrinsic Proteins.- 5. Intrinsic Proteins.- 6. Types of Intrinsic Membrane Proteins.- 7. The Structure of the Intramembrane Portion.- 8. The Quaternary Structure of Intrinsic Proteins.- 9. Summary.- References.- II: Methods for Studying Membranes.- 4: The Nature and Limitations of Electron Microscopic Methods in Biology.- 1. Introduction.- 2. The Conventional Transmission Electron Microscope.- 3. Specimen Preparation.- 4. Embedding.- 5. Sectioning.- 6. Positive Staining.- 7. Negative Staining.- 8. Low Dose Electron Microscopy.- 9. The Freeze-Fracture-Etch Technique.- 10. Summary.- References.- 5: Isolation and Characterization of Biological Membranes.- 1. Introduction.- 2. Methods for Dissociating and Separating Cells.- 3. Isolation of Plasma Membranes.- 4. Assessment of Purification.- 5. Expression of Data.- 6. Functional Properties of Plasma Membranes.- 7. Pathological Considerations.- 8. Summary.- References.- 6: Ultraviolet Absorption, Circular Dichroism, and Optical Rotatory Dispersion in Biomembrane Studies.- 1. General Considerations.- 2. Distortions and Corrections for Suspensions.- 3. Purple Membrane as a Sample Calculation.- 4. Summary.- References.- 7: Mathematical Models of Membrane Transport Processes.- 1. Introduction.- 2. Diffusion.- 3. Osmosis.- 4. Ionic Diffusion.- 5. Facilitated Diffusion.- 6. Summary.- References.- 8: Tracers in the Study of Membrane Processes.- 1. Introduction.- 2. Tracers and Problems in the Use of Tracers.- 3. Isotope Effects.- 4. Compartmental Systems and Compartmental Analysis.- 5. A Fundamental Theorem for Steady State Systems.- 6. Applications in the Study of Membrane Processes.- 7. Summary.- References.- 9: Principles of Water and Nonelectrolyte Transport across Membranes.- 1. Introduction.- 2. Diffusion as a Permeation Mechanism.- 3. Activation Energy for Diffusion: Measurement and Significance.- 4. Convection.- 5. Osmosis.- 6. Water and Nonelectrolyte Membrane Permeation Mechanisms.- 7. Summary.- References.- 10: Principles of Electrical Methods for Studying Membrane Movements of Ions.- 1. Introduction.- 2. Steady State Characteristics of Biological Membranes.- 3. Non-Steady-State Electrical Properties of Membranes.- 4. Fluctuation Analysis of Electrical Properties of Membranes.- 5. Summary.- References.- 11: Lipid Bilayer Membranes: Their Permeability Properties as Related to Those of Cell Membranes.- 1. Introduction.- 2. Planar Bilayer Membranes.- 3. Reconstitution of Biological Transport Systems in Lipid Bilayers.- 4. Summary.- References.- III: General Problems in Membrane Biology.- 12: Ion Selectivity in Membrane Permeation.- 1. Introduction.- 2. The Patterns of Ion Selectivity Observed for Biological and Model Systems.- 3. How Is Ion Discrimination Inferred from Electrical Measurements on Membranes?.- 4. Origins of Ion Selectivity.- 5. Summary.- References.- 13: Electrically Neutral Ion Transport in Biomembranes.- 1. Introduction.- 2. Electrically Silent Ion Pair Transport.- 3. Ion Pair Transport in Erythrocytes.- 4. Ion Pair Formation with Membrane Components.- 5. Summary.- References.- 14: Na and K Transport in Red Blood Cells.- 1. Introduction.- 2. Intracellular Solutes and Water.- 3. Donnan and “Double Donnan” Equilibrium.- 4. Membrane Potential.- 5. Active Transport.- 6. Stoichiometry of Na, K Pumping.- 7. Modes of Na, K Pump Operation.- 8. Ionic Discrimination by the Na, K Pump.- 9. Ouabain and the Na, K Pump.- 10. Molecular Mechanism of the Na,K Pump.- References.- 15: Ion-Coupled Transport across Biological Membranes.- 1. Introduction.- 2. Ion-Coupled Transport Processes.- 3. The Ion Gradient Hypothesis.- 4. Some Incompletely Resolved Problems.- 5. The Current Status.- 6. Summary.- References.- 16: The Provision of Cellular Metabolic Energy for Active Ion Transport.- 1. Introduction.- 2. Relationship of Ion Transport to Glycolysis and Oxidative Metabolism.- 3. ATP as the Major Link between Metabolism and Active Ion Transport.- 4. Transport Coupled to Metabolism by Mechanisms Which May Not Involve ATP.- 5. Regulation of Rates of Ion Transport and Metabolism.- 6. Summary.- References.- 17: Regulation of Cellular Volume.- 1. Introduction.- 2. Historical Perspective.- 3. The Gibbs-Donnan Equilibrium.- 4. The “Double Donnan” Hypothesis and Cellular Volume Regulation.- 5. Replacement of Intracellular Potassium by Sodium without Cellular Swelling.- 6. Regulation of Cellular Volume in Media Containing Cardiac Glycosides.- 7. The Specificity of Sodium in Cellular Volume Regulation.- 8. Cellular Volume Regulation by Means Other than the Cardiac Glycoside-Sensitive Na,K-ATPase.- 9. The Regulation of Volume in Cells Exposed to Anisosmotic Media.- 10. The Relationship between the Regulation of Cellular Volume and Transepithelial Sodium Transport.- 11. Summary and Conclusions.- References.- 18: Cell-to-Cell Communication: Permeability, Formation, Genetics, and Functions of the Cell-Cell Membrane Channel.- 1. Introduction.- 2. Permeability and Size of the Junctional Membrane Channel.- 3. Regulation of Channel Permeability by Ca2+.- 4. Formation of Junctional Membrane Channels.- 5. Genetics of the Junctional Membrane Channel.- 6. Functions of the Junctional Channels.- References.- 19: Genes and Membranes.- 1. Introduction.- 2. Criteria for Establishing that Differences in Membrane Properties Are Genetically Determined.- 3. Information that Can Be Gained from Biochemical and Physiological Studies on Membrane Mutants.- 4. Information that Can Be Gained from Genetic Analysis.- 5. Summary.- References.- 20: Membrane Immunology and Permeability Functions.- 1. Introduction.- 2. Membrane Immunology and Cation Transport in Erythrocyte Mutants.- 3. Immunology of Membrane Transport Proteins.- 4. Toward a Physiological Basis of Immune Cytolysis.- 5. Summary and Conclusion.- References.- 21: The Interaction of Hormones with Biological Membranes.- 1. Introduction.- 2. Hormone Interaction with Receptors.- 3. Chemical Composition of Membrane Receptors for Hormones.- 4. Self-Regulation of Membrane Content of Receptors.- 5. Translation of Hormone-Receptor Interactions into Biological Function.- 6. Disorders of Membrane Receptors.- 7. Other Classes of Hormone and Transmitter Receptors.- 8. Summary.- References.- 22: Modification of Membrane Function by Drugs.- 1. Introduction.- 2. Drugs Affecting Excitation Phenomena.- 3. Drugs Affecting Transport Mechanisms.- 4. Drugs Affecting Coupling Mechanisms of Membranes.- 5. Summary.- References.- IV: Transport Events in Specialized Cells, Tissues, and Organs.- 23: Processing of Exportable Proteins: Structure-Function Correlates and Role of Cellular Membranes.- 1. Introduction.- 2. Functional and Structural Considerations of the Secretory Process.- 3. Summary of Transport Steps.- 4. Membrane Interactions and Dynamics in the Secretory Process.- 5. Summary.- References.- 24: Lactose Transport in Escherichia coli.- 1. Introduction.- 2. Discovery.- 3. Substrates for Transport.- 4. Accumulation of Nonmetabolized Galactosides.- 5. Entry of o-Nitrophenylgalactoside.- 6. Induction of the Transport System.- 7. Affinity of Substrates for the Carrier.- 8. Exchange Diffusion.- 9. Counterflow.- 10. Steady State Accumulation: “Diffusion” versus Carrier.- 11. Identification of the Lactose Transport Protein.- 12. Energy Coupling.- 13. Membrane Vesicles.- 14. Binding Studies.- 15. Energy-Uncoupled Mutants.- 16. Lactose-Proton Cotransport.- 17. Summary.- References.- 25: Some General Properties of Excitable Tissues.- 1. Introduction.- 2. Osmotic Equilibrium in an Animal Cell.- 3. Signal Transmission.- 4. The Action Potential: What It Does.- 5. The Action Potential: How It Works.- 6. Reconstructing the Action Potential from Voltage Clamp Data.- 7. Summary.- References.- 26: Ion Movements in Skeletal Muscle in Relation to the Activation of Contraction.- 1. Introduction.- 2. The Ultrastructure of the Tubular System in Skeletal Muscle Fibers.- 3. Electrical Properties of the Surface and Tubular Membrane.- 4. Inward Spread of Excitation.- 5. Cellular Ca Movements Related to the Activation of Contraction.- 6. Summary.- References.- 27: Excitable Tissues: The Heart.- 1. Multicellular Structure of the Heart.- 2. Electrical Activity in Different Regions of the Heart.- 3. Ionic Basis and Function of Electrical Activity.- 4. Control of Cardiac Activity by Neurotransmitters.- 5. Summary.- References.- 28: Ion and Water Transport in Gastric Mucosa.- 1. Introduction.- 2. Histology.- 3. Ion Transport across the Secretory and Nutrient Membranes of the Tubular Cells.- 4. Water Transport.- 5. Summary.- References.- 29: Ion Transport by Gastric Mucosa.- 1. H+ Transport.- 2. Cl? Transport by Intact Mucosa.- 3. Conductance Pathways.- 4. Morphological Changes.- 5. Summary.- References.- 30: The Uptake of Lipids into the Intestinal Mucosa.- 1. Chemical Species of Lipids That Are Involved during Fat Absorption.- 2. The Barriers to Lipid Absorption in the Intestine.- 3. Characteristics of the Intestinal Microvillus Membrane Barrier to Lipid Absorption.- 4. Characteristics of the Intestinal Unstirred Water Layer Barrier to Lipid Absorption.- 5. Characteristics of Fatty Acid and Cholesterol Absorption in the Intestine.- 6. Role of Bile Acid Micelles in Facilitating Lipid Absorption in the Intestine.- 7. Summary Description of the Process of Lipid Uptake.- References.- 31: The Regulation of Glomerular Filtration Rate in Mammalian Kidneys.- 1. Introduction.- 2. Ultrastructural Considerations.- 3. Basic Characteristics of the Filtration Process.- 4. Determination of the Filtration Coefficient.- 5. Quantitative Description of Intraglomerular Dynamics.- 6. Physiological Regulation of Glomerular Filtration Rate.- 7. Intrarenal Distribution of Glomerular Filtration Rate.- 8. Summary.- References.- 32: The Proximal Nephron.- 1. Introduction.- 2. Distribution of Transport Functions along the Proximal Tubule.- 3. Electrophysiological Considerations.- 4. Sodium Chloride and Sodium Bicarbonate Transport.- 5. Some Unresolved Problems.- 6. Summary.- References.- 33: Transport Characteristics of the Loop of Henle.- 1. Introduction.- 2. Anatomy.- 3. Experimental Observations.- 4. Functional Role of the Loop of Henle in the Concentration of Urine.- 5. Summary.- References.- 34: Transport Functions of the Distal Convoluted Tubule.- 1. Introduction: General Properties of the Distal Convoluted Tubule.- 2. Transepithelial Net Movements of Solutes and Water.- 3. Electrophysiological Considerations.- 4. Mechanisms of Transport.- 5. Summary.- References.- 35: The Collecting Duct.- 1. Introduction.- 2. Morphologic Considerations.- 3. Methods of Study.- 4. Ion Transport by the Collecting Duct.- 5. Effects of Antidiuretic Hormone on Transport Events in Collecting Duct.- 6. Comparison of ADH Effects in Collecting Tubules and Amphibian Epithelia.- 7. The Mechanism of c-AMP Action.- 8. Summary.- References.- 36: Renal Hemodynamic Factors and the Regulation of Sodium Excretion.- 1. Introduction.- 2. Peritubular Capillary Regulation of Tubular Reabsorption.- 3. Mechanisms Involved in Hemodynamically Mediated Alterations in Sodium Transport.- 4. Intrarenal Distribution of Glomerular Filtration Rate and Blood Flow.- 5. Differences in Transport Characteristics of Superficial and Juxtamedullary Nephrons.- 6. Summary.- References.- V: Clinical Disorders of Membrane Transport Processes.- 37: Disorders of Ion Transport in Red Blood Cells.- 1. Introduction.- 2. Energetic and Ultrastructural Determinants of Permeability and Transport.- 3. Selective Na Leak: The Ion Pair Hypothesis.- 4. The Interaction of Membrane Pumps with the Glycolytic Pathway.- 5. Pump-Leak Relationships.- 6. Mechanisms of Red Blood Cell Destruction.- 7. Systemic Membrane Disorders Manifest in Red Blood Cells.- 8. Summary.- References.- 38: Inherited Membrane Disorders of Muscle: Duchenne Muscular Dystrophy and Myotonic Muscular Dystrophy.- 1. Introduction.- 2. Myotonic Muscular Dystrophy.- 3. Duchenne Muscular Dystrophy.- 4. Summary.- References.- 39: Disorders of Muscle Membranes: The Periodic Paralyses.- 1. Introduction.- 2. Clinical Features.- 3. Hypokalemic Periodic Paralysis.- 4. Hyperkalemic Periodic Paralysis.- 5. Normokalemic Periodic Paralysis.- 6. Summary.- References.- 40: The Anatomical Basis for Cardiac Rhythm and Conduction.- 1. Introduction.- 2. The Sinus Node.- 3. Internodal Pathways.- 4. The Atrioventricular Node.- 5. The Bundle of His.- 6. The Bundle Branches.- 7. Significance of Intercellular Junctional Differences in Sinus Node, AV Node, and His Bundle.- 8. Effect of Diseases and Pathological States on Cell Junctions in the Conduction System and the Potential Physiological Significance of Such Changes.- 9. Special Consideration of the Calcium Dependence of Undifferentiated Regions and of Calcium Independence of Gap Junctions.- 10. Summary.- References.- 41: Cholera Toxin, Adenylate Cyclase and the Process of Active Secretion in the Small Intestine: The Pathogenesis of Diarrhea in Cholera.- 1. Introduction.- 2. Cholera Toxin, c-AMP, and the Intestinal Secretory Process.- 3. Effects of Cholera Toxin on Adenylate Cyclase.- 4. Summary.- References.- 42: Malabsorption Syndromes.- 1. Introduction.- 2. Process of Normal Fat Digestion and Absorption.- 3. Normal Enterohepatic Circulation of Bile Acids.- 4. Process of Normal Carbohydrate and Protein Digestion and Absorption.- 5. Tests of Intestinal Digestive and Absorptive Function.- 6. Diseases Affecting the Normal Absorptive Mechanisms.- 7. Summary.- References.- 43: Mechanisms of Calcium Absorption: A Reappraisal.- 1. Introduction.- 2. Regulation of Calcium Absorption.- 3. Sites of Calcium Absorption.- 4. Mechanisms of Calcium Absorption.- 5. Passive and Facilitated Diffusion versus Active Transport.- 6. The Role of Vitamin D.- 7. Calcium Binding Protein.- 8. Clinical Disorders Associated with Alterations in Calcium Absorption.- 9. Summary.- References.- 44: Cystic Fibrosis.- 1. Introduction.- 2. Clinical Features.- 3. Prognosis.- 4. Genetics.- 5. Pathogenesis.- 6. Animal Models.- 7. Conclusions.- 8. Summary.- References.- 45: Uremia: Strategies in the Search for Toxins.- 1. General Features of the Uremic State.- 2. Examples of Altered Cellular Transport in Uremia.- 3. The Search for Toxins.- 4. Production of a Unique Toxin—Guanidines.- 5. Accelerated Production of a Normal Substance—Natriuretic Hormone.- 6. Retention of a Normal Metabolic Product—Aryl Acids.- 7. Summary.- References.- 46: Disorders of Glomerular Filtration.- 1. Introduction.- 2. Definitions.- 3. General Concepts.- 4. Experimental Methods.- 5. Specific Biologic Mechanisms for Reduction in GFR.- 6. Summary.- References.- 47: Cellular Defects in Urinary Acidification and Renal Tubular Acidosis.- 1. Introduction.- 2. Transport Processes and Functional Organization of Urinary Acidification.- 3. Disorders of Acidification in Different Nephron Segments.- 4. Cellular Defects in Bicarbonate Reab sorption.- 5. Defects in the Formation of Transepithelial Acid-Base Gradients.- 6. Defects in Acid Excretion without Impairment of Gradient Formation.- 7. Clinical Spectrum and Associated Disorders of Electrolyte Transport.- 8. Summary.- References.- 48: Cystinosis and the Fanconi Syndrome.- 1. Introduction.- 2. Historical Resumé.- 3. Clinical and Pathological Features.- 4. Chemistry and Metabolism of Cystine.- 5. Other Causes of the Fanconi Syndrome.- 6. Treatment.- 7. Prevention of Cystinosis through Antenatal Diagnosis.- 8. Summary.- References.- 49: Renal Tubular Defects in Phosphate and Amino Acid Transport.- 1. Introduction.- 2. Defects in Phosphate Transport Processes.- 3. Aminoacidurias.- 4. Summary.- References.- 50: The Polyuric Syndromes.- 1. Introduction.- 2. Antidiuretic Hormone.- 3. Regulation of Hormone Release.- 4. Urinary Concentrating and Diluting Processes.- 5. ADH and Water Permeation.- 6. Classification and Description of Polyuric Syndromes.- 7. Pathogenesis of Symptomatology.- 8. Diagnostic and Therapeutic Considerations.- 9. Summary.- References.- 51: Ischemia and Disturbances in Cell Volume Regulation.- 1. Introduction.- 2. Cell Volume and Ischemia.- 3. Responses to in Vivo Alterations in Extracellular Fluid Tonicity.- 4. Summary.- References.