Table 2.
Gene Therapy Approaches for Hypertrophic Cardiomyopathy (HCM).
| Approach | Target | Vector | Model | Findings/Outcomes |
|---|---|---|---|---|
| AAV9 cMyBPC NTD Gene Transfer [57] | Cardiac Myosin-Binding Protein C (cMyBPC) | AAV9 | cMyBPC-deficient mice | Improved cardiac function, reduced histopathological signs of cardiomyopathy, delayed HCM development. |
| AAV9-S15D-RLC Gene Transfer [59] | Myosin Regulatory Light Chain (RLC) D166V mutation | AAV9 | Humanized HCM-D166V mice | Improved heart performance, increased contractile function. |
| CRISPR/Cas9 Editing of MYBPC3 [60] | Myosin-Binding Protein C3 (MYBPC3) | AAV9 | Rat model (1098hom) | Restored MYBPC3 expression by 2.12%, CRISPR HDR genome editing corrected 3.56% of total mutations and normalized phenotype. |
| Adenine Base Editor and sgRNA System [61] | Myosin Heavy Chain 7 (MYH7) | AAV9 + single plasmid + sgRNA | HCM patient-derived cells, humanized mouse model of HCM | Normalization of contractile force and rescued cellular energetics. |