Identification of familial forms of different diseases has provided a unique opportunity to study how changes in the structure of a gene create a dysfunction in the physiology of the resulting protein. Changes in the genes encoding for ion channels produce modifications in the function of the channel. Changes in the sodium channel are responsible for long QT syndrome, Brugada syndrome and conduction defects. Changes in the potassium channels have been related to long QT syndrome, short QT syndrome and familial atrial fibrillation. Relating genetic modification and dysfunction allows to study the substrate for a disease, understand the physiopathologic mechanism and look for appropriate therapies.
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