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
How Channels Work
Methods for Studying Ion Channels
Voltage-Gated Na+ Channels
Voltage-Gated K+ Channels
Ca-Activated K+ Channels
Inward Rectifier K+ Channels
Voltage-Gated Ca2+ Channels
Voltage-Gated Cl- Channels
Cyclic Nucleotide-Gated Channels
Epithelia Na+ Channels
Ligand-Gated Ca2+ Channels
ACh Receptor Channels
Glutamate Receptor Channels
Gap Junction Channels
Antibodies to Ion Channels
Ion Channels in Viruses
Ion Channels as Lethal Agents
A Miscellany of Ion Channels
The Last Word
Dr. Frances Ashcroft is a Royal Society GlaxoSmithKline Research Professor at the University Laboratory of Physiology and a Fellow of Trinity College at the University of Oxford. Elected a Fellow of the Royal Society of London in 1999, she wrote the previous edition of Ion Channels and Disease and is Director of both the Oxford Centre for Gene Function and OXION, a training and research program on the integrative physiology of ion channels. In addition to being elected a Fellow of the Royal Society in 1999, Dr. Ashcroft was also awarded the Walter B. Cannon Award, the highest honor bestowed by the American Physiological Society, and the 2012 L'Oréal-UNESCO Award for Women in Science. She was awarded honorary degrees of Doctor of the University from the Open University and Doctor of Science from the University of Leicester for her incredible contributions to ion channel physiology. Her current research focuses on the role of ATP-sensitive potassium channels in insulin secretion in both health and disease, aiming to decipher why this process is dysfunctional in individuals with type 2 diabetes.