La caractérisation de deux nouvelles mutations du gène SCN5A liées au syndrome de QT long révèle une déstabilisation de l'état inactivé de Nav1.5
|Abstract:||Sodium channels are important transmembrane proteins. They are involved in the upstroke of action potential and they are necessary for the cardiac cell excitability. Their dysfunctions caused by mutations can lead to serious pathologies and cardiac impairments such as long QT syndrome, Brugada syndrome, dilated cardiomyopathy and even sudden death. The study of these mutations is a key step toward the comprehension of the pathophysiological mechanisms involved. The knowledge progress allows to lead accurate studies on drug development. This study focused on the analysis of two novel SCN5A mutations and allowed to highlight the dysfunctional biophysic characteristics of these mutants and to confirm the medical diagnosis.|
|Document Type:||Mémoire de maîtrise|
|Open Access Date:||19 April 2021|
|Collection:||Thèses et mémoires|
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