THE ROLE OF DESMOPLAKIN IN CARDIAC DEVELOPMENT AND DISEASE

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Desmosomes are major cell adhesion junctions between cells that anchor the cell membrane to the intermediate filament network, and found particularly in tissues undergoing constant stress, such as the heart. Desmoplakin, is a central component of the desmosomal complex, which is highly expressed in the cardiac desmosomes. Recent human genetic studies have revealed that desmoplakin mutations are associated with the human cardiac disease, arrhythmogenic right ventricle dysplasia/cardiomyhopathy (ARVD/C). Despite this implication the role of desmoplakin in the heart and ARVD/C, remains elusive. To understand the structural and functional role of desmoplakin in the heart, we have generated a novel mouse model, which conditionally ablates desmoplakin in the heart and are in the process of generating a mouse model harboring a human mutation of desmoplakin. To determine whether there are structural alterations in these mutant mice, we would like to perform TEM and immunolabeling studies.