|
|
Article: New research on Brugada syndrome from Baylor College of Medicine, College of Medicine summarized.
- Article from:
- Biotech Week
- Article date:
- October 21, 2009
CopyrightCOPYRIGHT 2009 NewsRX. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
|
"Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been implicated in the pathogenesis of Brugada syndrome (BrS). Febrile illnesses have been recognized to unmask and/or trigger the BrS phenotype," scientists in the United States report (see also Brugada Syndrome).
"However, the pathophysiological mechanism has not been fully elucidated. A novel SCN5A missense mutation, V1340I, was identified in a patient with BrS suffering from frequent episodes of polymorphic ventricular tachycardia (VT) and syncope associated with fever. The biophysical modifications of hNa(v)1.5 by V1340I were studied. The effects of the V1340I mutation were studied ...