Inherited cardiac diseases, pluripotent stem cells and genome editing combined – the past, present and future

Key phenotypic features of inherited cardiac diseases that are seen in patients are often detected in the corresponding hiPSC ‐derived cardiomyocytes (past). Now (present), genome editing tools enable disease genotype–phenotype relationships to be investigated. In the future, this could aid in identifying both pathogenic and disease‐modifying genetic variants, and potentially contribute to improvements in diagnosis, prognosis and treatment of patients. AbstractResearch on mechanisms underlying monogenic cardiac diseases such as primary arrhythmias and cardiomyopathies has until recently been hampered by inherent limitations of heterologous cell systems, where mutant genes are expressed in non ‐cardiac cells, and physiological differences between humans and experimental animals. Human induced pluripotent stem cells (hiPSCs) have proven a game‐changer by providing new opportunities for studying the disease in the specific cell type affected, namely the cardiomyocyte. hiPSCs are particu larly valuable because not only can they be differentiated into unlimited numbers of these cells, but they also genetically match the individual from whom they were derived. The decade following their discovery showed the potential of hiPSCs for advancing our understanding of cardiovascular diseases , with key pathophysiological features of the patient being reflected in their corresponding hiPSC‐derived cardiomyocytes (the past). Now, recent advances in genome editing for repairing o...
Source: Stem Cells - Category: Stem Cells Authors: Tags: Embryonic Stem Cells/Induced Pluripotent Stem Cells Source Type: research