Human Biochemistry and Disease

Front cover......Page 1
Human Biochemistry and Disease......Page 4
Copyright page......Page 5
Table of contents......Page 6
Preface......Page 14
Introduction......Page 18
General Considerations......Page 19
Further Reading......Page 49
Prion Disease: A Fatal Protein Conformation......Page 50
Amino Acids......Page 56
Proteins......Page 71
Further Reading......Page 109
Clinical Enzymology in Diagnosis of Disease......Page 110
Enzymes Are Catalytic Proteins......Page 113
Kinetics......Page 114
Classification......Page 124
Coenzymes......Page 129
Prosthetic Groups......Page 136
Drugs and Enzymes......Page 142
Further Reading......Page 146
Diabetes: A Prevalent Disease That Disrupts Glucose Utilization......Page 148
Simple Sugars......Page 163
Starch......Page 170
Glycogen......Page 171
Is Type 2 Diabetes a Disease of Protein Aggregation?......Page 187
Use of Glucose for Energy......Page 190
Glycoproteins......Page 199
Blood Group Proteins......Page 202
Further Reading......Page 205
Hypercholesterolemia: A Disease in Which Serum Cholesterol Is Not Properly Imported at the Cellular Level......Page 206
Fatty Acids and Fat......Page 215
Fatty Acid Oxidation......Page 219
Activation and Transport of Fatty Acids into Mitochondria......Page 223
Lipid Metabolism and Hormonal Control......Page 224
Phospholipids......Page 237
Glycosphingolipids......Page 243
Lipoproteins......Page 250
Lipid Anchoring of Proteins to Membranes......Page 253
Further Reading......Page 255
Huntington’s Disease: A Trinucleotide Repeat Mutation......Page 256
Purines and Pyrimidines......Page 261
Biosynthesis of Deoxyribonucleic Acids......Page 305
Functional Genomics......Page 329
Ribonucleic Acids......Page 333
Further Reading......Page 339
Asbestosis: A Disease of Aberrant Transcription......Page 340
Transcription Factors and Transcription Complex......Page 346
Coactivators and Corepressors......Page 354
The Glucocorticoid Receptor as a Model Transcription Factor......Page 366
Chromatin......Page 374
Further Reading......Page 380
Panhypopituitarism: A Malfunctionof the Hypothalamus–Pituitary–End Organ Axis......Page 382
Humoral Mechanism......Page 384
Posterior Pituitary......Page 397
Actions of Releasing Hormones and Anterior Pituitary Hormones......Page 404
Gonadotropins......Page 423
Thyrotropin......Page 434
Prolactin......Page 447
Gastrointestinal Hormones......Page 452
Further Reading......Page 461
Stress: A State That Can Have Serious Pathological Consequences......Page 462
Adrenal Cortex......Page 469
Steroid Hormone Structures......Page 493
Unliganded Forms of Receptors and Mechanism of Activation......Page 495
Ligands and Receptor Conformation: The Sex Hormones......Page 500
Peroxisome Proliferators and Orphan Receptors......Page 505
Programmed Cell Death (Apoptosis) Induced by Glucocorticoids......Page 508
Further Reading......Page 513
Hyperammonemia and Disruptions of the Urea Cycle......Page 514
The Urea Cycle......Page 516
Nitrogen Flow, Amino, and Amide Group Transfers in Amino Acid Metabolism......Page 520
Transamination......Page 525
Transamidation......Page 529
Deamination......Page 530
Amino Acid Oxidation......Page 531
Amino Acid Decarboxylation......Page 533
Metabolism of Specific Amino Acids to Key Substances......Page 534
Catabolism of Amino Acids......Page 563
Metabolism of Lipids......Page 571
Glucagon......Page 576
Fatty Acid Degradation......Page 577
Fat as Storage Energy......Page 578
Lipid and Carbohydrate Metabolism Are Jointly Regulated......Page 582
Steroid Hormone Metabolism......Page 583
Nucleic Acid Metabolism......Page 587
DNA Damage and Repair......Page 590
Cell Death......Page 592
Carbohydrate Metabolism......Page 594
Regulation of Blood Glucose Level......Page 598
Overview......Page 602
Further Reading......Page 603
New Approaches to Ovarian Cancer, Such as the Action of TRAIL (TNF-Related Apoptosis-Inducing Ligand) Might Form the Basis of a Treatment......Page 604
TNF Superfamily......Page 611
Growth Factors......Page 617
Interleukins......Page 671
Further Reading......Page 700
Cystic Fibrosis: A Genetic Disease Involving Aberrant Ion Transport......Page 702
Types of Membrane Transport......Page 712
Energy-Requiring Transport: Active Transport......Page 719
Simple and Coupled Transporters......Page 721
Ions and Gradients......Page 723
How Do Magnesium and Other Divalent Ions Enter Cells?......Page 730
Proton (H+) Transport......Page 731
Amino Acid Transporters......Page 737
Fatty Acid Uptake......Page 740
Sodium Conductance and Voltage-Gated Sodium Channels......Page 746
Multidrug Resistance Channel (MDR) of the ABC Transporter Superfamily......Page 749
Blood-Brain Barrier......Page 751
Further Reading......Page 754
Iron-Deficiency Anemia......Page 756
Ingestion and Uptake of Iron......Page 760
Heme Synthesis......Page 770
Formation of Hemoglobin......Page 777
Dietary Metals......Page 781
Vitamins......Page 818
The Diet......Page 866
Further Reading......Page 869
Deep Vein Thrombosis: A Major Health Problem......Page 870
The Blood-Clotting Mechanism......Page 881
Blood......Page 888
Lymphatic System......Page 911
Further Reading......Page 915
The Surveillance System and Cancer......Page 916
Types of Antibodies......Page 927
Antibody Formation......Page 934
Autoimmunity......Page 937
Complement System......Page 950
Properdin......Page 966
C-Reactive Protein......Page 968
Further Reading......Page 970
Pain: A Constant Health Problem......Page 972
Substance P......Page 979
Opioids and Morphine......Page 985
Anandamide......Page 991
Excitatory Amino Acids......Page 1005
The Classical Neurotransmitters......Page 1020
Catecholamines and Monoamines......Page 1044
Characteristics of the Brain......Page 1061
Further Reading......Page 1063
AIDS: A Deadly Viral Disease......Page 1064
Other Viruses of Current Interest......Page 1085
Bacteriophage......Page 1106
A Bacterial Cell, E. coli......Page 1124
Further Reading......Page 1168
Appendix 1 Abbreviations of the Common Amino Acids......Page 1170
Base Pairing......Page 1172
Appendix 3 Weights and Measures......Page 1174
Glossary......Page 1176
Index......Page 1194