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SCN5A Polymorphism Restores Trafficking of a Brugada Syndrome Mutation on a Separate Gene by Steven Poelzing, Cinzia Forleo, Melissa Samodell, Lynn Dudash,

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Presentation on theme: "SCN5A Polymorphism Restores Trafficking of a Brugada Syndrome Mutation on a Separate Gene by Steven Poelzing, Cinzia Forleo, Melissa Samodell, Lynn Dudash,"— Presentation transcript:

1 SCN5A Polymorphism Restores Trafficking of a Brugada Syndrome Mutation on a Separate Gene by Steven Poelzing, Cinzia Forleo, Melissa Samodell, Lynn Dudash, Sandro Sorrentino, Matteo Anaclerio, Rossella Troccoli, Massimo Iacoviello, Roberta Romito, Pietro Guida, Mohamed Chahine, Mariavittoria Pitzalis, and Isabelle Deschênes Circulation Volume 114(5):368-376 August 1, 2006 Copyright © American Heart Association, Inc. All rights reserved.

2 Figure 1. A, Pedigree of a family with BrS. Steven Poelzing et al. Circulation. 2006;114:368-376 Copyright © American Heart Association, Inc. All rights reserved.

3 Figure 2. Whole-cell sodium currents. Steven Poelzing et al. Circulation. 2006;114:368-376 Copyright © American Heart Association, Inc. All rights reserved.

4 Figure 3. R282H-SCN5A is a trafficking mutation. Steven Poelzing et al. Circulation. 2006;114:368-376 Copyright © American Heart Association, Inc. All rights reserved.

5 Figure 4. The H558R-SCN5A polymorphism rescues the R282H-SCN5A mutation by increasing R282H-SCN5A membrane trafficking. Steven Poelzing et al. Circulation. 2006;114:368-376 Copyright © American Heart Association, Inc. All rights reserved.

6 Figure 5. Heterotypic fragments of hNav1.5 interact before protein trafficking to the cell membrane. Steven Poelzing et al. Circulation. 2006;114:368-376 Copyright © American Heart Association, Inc. All rights reserved.

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