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Introduction to Neurobiology - Lecture Notes 07 - Diseases of Ion Channels

Introduction to Neurobiology - Lecture Notes 07 - Diseases of Ion Channels

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BioNB222 Spring 2008 Cornell University Joseph Fetcho 1 Lecture 7. Diseases of Ion Channels Lecture Outline The importance of ion channels is revealed by the severe consequences of altering their normal function. In this lecture, we will explore some links between ion channel dysfunction and disease, with the emphasis on so-called channelopathies. 1. Remember from the beginning of my lectures that channels and ion flows are targeted by many animals to kill other animals. Classic examples of this include: A. Puffer fish and newts use tetrodotoxin, a sodium channel blocker, for defense, There are many such toxins – e.g. those used by cone snails to hunt prey. B. Humans kill other humans by altering the potassium gradient in lethal injection procedures. 2. How can channel function go awry in disease? A. Changes in the promoter of the channel gene can lead to too few or too many channels. B. Changes in the channel coding region of the gene that can lead to loss of function or a change (gain) of function, both of which can be bad.
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