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Medical Ion Channels and Disease: Channelopathies
Posted on 2010-03-15
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Ion Channels and Disease: Channelopathies Publisher: Academic Press
Number Of Pages: 481 Publication Date: 2000-01-15 Sales Rank: 738655 ISBN / ASIN: 0120653109 EAN: 9780120653102 Binding: Hardcover Manufacturer: Academic Press Studio: Academic Press 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. Key Features * 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 Review: The answer is in here ...and here is the question: The author has a splendid writing gift, and she has produced a broad and wonderfully clear survey of the state of the art in this vigorous field. For a detailed summary of what you will find in the book, check the editorial review (above) from the New England Journal of Medicine. It seems to me the book might well be read in the context of two other important books in this field: One is Bertil Hille's classic, "Ionic Channels of Excitable Membranes." As a science gathers momentum (and this one is certainly surging) we tend to lose track of what is known and what is simply assumed. Hille's book will fill in some blanks at the fundamental level - and show you exactly where the underlying assumptions are in this science. If you are at all skeptical, and of course you should be, you will like Hille's calm precision and care. The other background book is Spikes, by Rieke et al. The implication of Spikes is that Adrian was wrong and that, therefore, all of us have been wrong about what nerves actually do - and wrong since 1926. The authors put this rather more diplomatically than I have, but there it is: Adrian wrong. Spikes summarize evidence accumulated since about 1993 that a single nerve impulse, all by itself, can somehow convey information to the brain. This shocking news will have to be either explained or explained away in terms of the biochemical machinery of the neuron. The current explanation (which is based on precise arrival timing) would seem to rely upon the physiological equivalent of a quartz crystal, um, a device we don't often come across in biochemistry. It would be my guess that a better understanding of ion channels will point to a more biologically realistic solution. And a new and better picture of how the neuron works. Ion Channels and Disease is the most current and broadest survey of the subject. The key to the problem is probably in here somewhere, or is referenced here, and is waiting to be discovered. I would pay particular attention to any type of evidence for linkage, structure or signaling between "individual" channels. Linkage between discrete trans-membrane ion channels could create a longitudinal channel running the length of the nerve, probably many of them. A multi-channel axon - a cable rather than a wire -- would be one possible solution to the new mystery of how a single impulse can be freighted with graded information.
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