Genetic disorders of ion channels

Abstract

Ion channels play important roles in numerous physiological processes, including the control of heart rate, propagation of the nerve impulse, and insulin secretion. Abnormal functioning of ion channels can cause disease. This article presents an overview of the diseases in humans that are a result of mutations in ion channels.

Figure 1

The cardiac action potential and surface ECG. Some of the major ionic currents involved are indicated.

Figure 2

Schematic of ion channels and transporters involved in sodium reabsorption in the distal loop of Henle.

Figure 3

Paradigm of insulin secretion from the pancreatic β-cell.