IP: Dr. Diego Franco Jaime

Resumen del proyecto: Brugada syndrome is an autosomal dominant genetic disease characterized by a typical alteration of the electrocardiogram (ECG) displaying ST segment elevation and an apparent right bundle branch block. Brugada syndrome patients are frequently associated with malignant ventricular arrhythmias (polymorphism ventricular tachycardia and/or ventricular fibrillation) and cardiac sudden death (CSD). To date, only SCN5A mutations have been associated with Brugada syndrome. Such point mutations seems to provoke a decrease in the cardiac sodium current during depolarization and therefore to produce the clinical manifestations of Brugada syndrome. Our Cardiovascular Research group at the Department of Experimental Biology of the University of Jaén, in collaboration with the Arrhythmia Unit of the University Hospital Virgen de la Nieve (Granada), is interested on the analysis of the putative genetic alterations (point mutations) of the SCN5A gene in individuals that have suffered at least one arrhythmic episode with a characteristic Brugada syndrome ECG pattern. By means of direct SCN5A sequencing, we have detected a variety of nucleotide alterations in some of these family members which may be correspond to new SCN5A polymorphisms and/or mutations. In order to determinate if these nucleotide alterations are specifically associated with the Brugada phenotype or whether they represent low polymorphisms observed in the normal population, we would like to compare those findings with those derived from a control healthy individuals. For this purpose, we ask herein to the Spanish National DNA Bank to provide us with 100 samples of genomic DNA, corresponding to individuals with apparent no structural and/or electrophysiological cardiac diseases

Entidad financiadora: Universidad de Jaén