THE ROLE OF DESMOPLAKIN IN CARDIAC DEVELOPMENT AND DISEASE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 桥粒是细胞间的主要黏附连接，它将细胞膜固定在中间细丝网络上，尤其在承受持续压力的组织中发现，如心脏。桥粒蛋白是桥粒复合体的中心成分，在心脏桥粒中高表达。虽然桥粒蛋白基因突变与人类右室心肌病，如致心律失常性右室发育不良(ARVD)有关，但其在心脏和ARVD中的作用仍不清楚。为了了解桥粒蛋白在心脏中的结构和功能作用，我们建立了心脏特异的桥粒蛋白条件性基因敲除小鼠。为了确定在这些基因敲除的小鼠中是否存在结构变化，我们想要进行透射电子显微镜和免疫标记研究。

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. Although desmoplakin mutations have been associated with human right ventricular cardiomyopathies, such as arrhythmogenic right ventricle dysplasia (ARVD), its role in the heart and ARVD, remain unknown. To understand the structural and functional role of desmoplakin in the heart, we have generated cardiac-specific desmoplakin conditional knockout mice. To determine whether there are structural alterations in these knockout mice, we would like to perform TEM and immunolabeling studies.