Yennhi Vohoang

Project

Elucidating the mechanisms by which premature truncations in desmoplakin cause arrhythmogenic cardiomyopathies

Arrhythmogenic cardiomyopathy is a devastating inheritable heart disease characterized by lethal heart rhythms and abnormal contractile function that can lead to sudden cardiac death or congestive heart failure. Approximately 1 in 2000 to 1 in 5000 people of the general population are thought to have mutations that lead to arrhythmogenic cardiomyopathy. More than 70% of arrhythmogenic cardiomyopathy cases are due to mutations in desmosomal proteins, which are essential for maintaining structural integrity and intercellular junctions at the intercalated discs in the heart. Two patients with mutations in desmoplakin, a desmosomal protein, have been identified. From these patients, peripheral blood mononuclear cells are isolated and turned into human induced pluripotent stem cells. These patient derived induced pluripotent stem cells are then differentiated into cardiomyocytes to be used as a model for arrhythmogenic cardiomyopathy.

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