Table 3.
Therapeutic approaches for PLN-R14del.
| Strategy | Molecular effect | Approach | Model tested | Phenotypic effect | Reference |
|---|---|---|---|---|---|
| Gene editing | Gene correction | TALEN | iPSC-CM | Ameliorated Ca2+ abnormalities | (68) |
| Gene correction | CRISPR-Cas9 | Mouse model | Reduced susceptibility to arrhythmias | (53) | |
| mRNA degradation | ASO | Mouse model | Prevented PLN aggregation | (82, 83) | |
| Pharmacological | UPR inducer | BiX | Mouse model | Ameliorated contractile dysfunction | (72) |
| Myosin activator | Omecamtiv mecarbil | Mouse model | Improved contractility | (55) | |
| Ca2+-scavenging | GCaMP6f, Parvalbumin | iPSC-CM | Improved contractile force | (67) | |
| SERCA2 stimulator | Istaroxime | Zebrafish model | Ameliorated Ca2+ dysregulation | (58) | |
| CaMKII inhibitor | KN93 | Mouse model | Prevented aftercontractions | (54) |