TABLE 2.
Summary of hiPSC calcium changes in cardiovascular disease modeling.
| Disease Modeled | Gene Affected and Specific Mutations | Effects on Calcium/Calcium Transients | Reference |
|---|---|---|---|
| PLN DCM | PLB (R9C) | Shortened calcium transient decay, shortened relaxation time, blunted adrenergic response | Ceholski et al. (2018) |
| PLN DCM | PLB (R14 Deletion) | Irregular calcium transients, corrected by gene editing | Karakikes et al. (2015b) |
| CPVT1 | RyR2 (F2483I) | Increase in peak amplitude, decrease in recovery rate | Fatima et al. (2011) |
| CPVT1 | RyR2 (F2483I) | Decrease in peak amplitude, upstroke velocity, recovery rate | Zhang et al. (2013b) |
| CPVT1 | RyR2 (R420Q) | Decrease in peak amplitude | Novak et al. (2015) |
| CPVT2 | CASQ2 (D307H) | Decrease in peak amplitude and upstroke velocity, increase in diastolic calcium levels | Novak et al. (2015) |
| cTnT DCM | TNNT2 (K210 Deletion) TNNT2 (E160 Deletion) | Decrease in peak amplitude | Li et al. (2021b) |
| cTnT DCM | cTnT (R173W) | Reduced calcium transients, rescued by SERCA overexpression | Sun et al. (2012) |
| HCM | MYH7 (A663H) | Increased irregular calcium transients, increased diastolic calcium, rescue with verapamil | Lan et al. (2013) |
| HCM | MYL2 (R58Q) | Decrease in peak amplitude and recovery rate, increase in arrhythmic calcium transients | Zhou et al. (2019) |
| HCM | MYH7 (R663H) | Decrease in peak amplitude, increase in diastolic calcium levels and rate of abnormal calcium transients | Wu et al. (2019) |
| MYBPC3 (V321M) | |||
| MYBPC3 (V219L) | |||
| TNNT2 (R92W) | |||
| HCM | MYH7 (Arg442Gly) | Decrease in peak amplitude, increase in diastolic calcium levels | Han et al. (2014) |
| Timothy Syndrome/LQT8 | CACNA1C | Increase in peak amplitude, decrease in recovery rate and frequency of spontaneous beating | Yazawa et al. (2011) |
| DMD | Dystrophin (exon 4–43, 3–7) | Increase in arrhythmic calcium transients, rescue with beta blockers | Kamdar et al. (2020) |
| DMD | miRNA-378a Deletion | Increase in irregularity of spontaneous beating frequency | Martyniak et al. (2021) |
| DMD | Dystrophin | Decrease in peak amplitude, upstroke velocity, recovery rate, increase in diastolic calcium levels | Chang et al. (2021) |