2021 Volume 41 Issue 3 Pages 124-133
Long QT syndrome is a lethal arrhythmic disorder caused by mutations in genes encoding ion channels and related proteins. Recent advances in genome analysis technologies have raised the issue of interpreting genetic variants of unknown significance. Since human induced pluripotent stem（iPS）cell models mimic the phenotypes of diseases, they may play an important role in solving problems associated with genotype-phenotype mismatch. We have shown that disease-specific iPS cell-derived cardiomyocytes（iPSC-CMs）differentially respond to specific ion-channel blockers, reflecting ion channel abnormalities. These results indicate that this strategy may enable us to detect abnormal channels based on the phenotype of patient-specific iPSC-CMs. This method may also be useful in diagnosing cases where pathogenic genetic mutations cannot be identified. In addition, iPSC-CMs are being studied as an experimental model for the development of therapies for hereditary arrhythmias. Here, we discuss the latest iPSC technologies related to hereditary arrhythmias.
