Ion Channels and Disease

Frances M. Ashcroft

• Publisher: Academic Press
• Year: 1999
• Print ISBN:
  9780120653102
• eBook ISBN:
  9780080535210
• Topic: Biological Sciences
• Subtopic: Biochemistry
• Index: Biological Sciences

Ion channels are membrane proteins that act as gated pathways for the movement of ions across cell membranes. They play essential roles in the physiology of all cells. In recent years, an ever-increasing number of human and animal diseases have been found to result from defects in ion channel function. Most of these diseases arise from mutations in the genes encoding ion channel proteins, and they are now referred to as the channelopathies. Ion Channels and Disease provides an informative and up-to-date account of our present understanding of ion channels and the molecular basis of ion channel diseases. It includes a basic introduction to the relevant aspects of molecular biology and biophysics and a brief description of the principal methods used to study channelopathies. For each channel, the relationship between its molecular structure and its functional properties is discussed and ways in which genetic mutations produce the disease phenotype are considered. This book is intended for research workers and clinicians, as well as graduates and advanced undergraduates. The text is clear and lively and assumes little knowledge, yet it takes the reader to frontiers of what is currently known about this most exciting and medically important area of physiology. - Introduces the relevant aspects of molecular biology and biophysics - Describes the principal methods used to study channelopathies - Considers single classes of ion channels with summaries of the physiological role, subunit composition, molecular structure and chromosomal location, plus the relationship between channel structure and function - Looks at those diseases associated with defective channel structures and regulation, including mutations affecting channel function and to what extent this change in channel function can account for the clinical phenotype

Table of contents

• Front Cover
• Ion Channels and Disease
• Copyright Page
• CONTENTS
• PREFACE
• CHAPTER 1. INTRODUCTION
• CHAPTER 2. FROM GENE TO PROTEIN
• CHAPTER 3. HOW ION CHANNELS WORK
• CHAPTER 4. STUDYING ION CHANNELS
• CHAPTER 5. VOLTAGE-GATED Na+ CHANNELS
• CHAPTER 6. VOLTAGE-GATED K+ CHANNELS
• CHAPTER 7. Ca2+–ACTIVATED K+ CHANNELS
• CHAPTER 8. INWARDLY RECTIFYING K+ CHANNELS
• CHAPTER 9. VOLTAGE-GATED Ca2+ CHANNELS
• CHAPTER 10. VOLTAGE-GATED CL- CHANNELS
• CHAPTER 11. CYCLIC NUCLEOTIDE-GATED CHANNELS
• CHAPTER 12. CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
• CHAPTER 13. EPITHELIAL Na+ CHANNEL
• CHAPTER 14. LIGAND-GATED Ca2+ CHANNELS
• CHAPTER 15. ACETYLCHOLINE RECEPTORS
• CHAPTER 16. GLUTAMATE RECEPTORS
• CHAPTER 17. GLYCINE RECEPTORS
• CHAPTER 18. GABAA RECEPTORS
• CHAPTER 19. WATER CHANNELS
• CHAPTER 20. GAP JUNCTION CHANNELS
• CHAPTER 21. AUTOANTIBODIES TO ION CHANNELS
• CHAPTER 22. ION CHANNELS IN VIRUSES
• CHAPTER 23. ION CHANNELS AS LETHAL AGENTS
• CHAPTER 24. A RAGBAG OF CHANNELS
• A LAST WORD
• BIBLIOGRAPHY
• INDEX