Induced Pluripotent Stem Cells in Familial Dilated Cardiomyopathy

Abstract

Dilated cardiomyopathy (DCM) is one of the most common cardiac defects that contribute to heart failure. An increasing body of evidences has indicated that DCM is a highly heterogeneous disease and its genetic trait is causative to the development of the familial cases. Owing to the lack of human cell-based model of this disease, the underlying pathogenic mechanisms of familial DCM remain difficult to be elucidated. To date, somatic cells isolated from patients with mutations associated with various diseases can be reprogrammed into induced pluripotent stem cells (iPSCs), and subsequently differentiated into functional cardiomyocytes. In this chapter, the potential application of the iPSC technology in the study of familial DCM is reviewed. This chapter also summarizes the current data about genetic association of familial DCM and provides examples of successful application of patient-specific iPSCs and their cardiac derivatives as a novel tool for modeling of familial DCM. In addition, the potential usage of the human iPSCs-derived cardiomyocytes in drug screening and toxicology studies are also addressed. Finally, current limitation of the iPSC-technology is discussed.