TMC6 Is a Novel Therapeutic Target for Pathogenic Cardiac Hypertrophy
Abstract
BACKGROUND: Pathogenic cardiac hypertrophy, often driven by mechanical stress, is a leading cause of heart failure. However, effective therapeutic targets remain limited. TMC6 (transmembrane channel-like protein 6) is abundant in healthy myocardium but downregulated in hypertrophic hearts; its role in cardiac hypertrophy remains undefined. METHODS: We combined cardiac-specific Tmc6 knockout mice subjected to transverse aortic constriction surgery, neonatal rat ventricular myocytes, and CRISPR/Cas9-edited human pluripotent stem cell-derived cardiomyocytes to assess hypertrophy and signaling readouts. Subcellular localization, protein–protein interaction, and competitive peptide assays were used to dissect the mechanism. Adeno-associated virus serotype 9 (AAV9)-cTnT (cardiac troponin T)-TMC6 was used for in vivo rescue. RESULTS: TMC6 deficiency increased cardiomyocyte size, fetal gene expression, and adverse remodeling in vivo and in vitro, whereas TMC6 overexpression blunted hypertrophic responses. Full-length TMC6 localized to the endoplasmic reticulum and bound CIB1 (calcium and integrin-binding protein 1) to sequester it in the endoplasmic reticulum, limiting CIB1 access to sarcolemmal Ca 2+ microdomains required to scaffold calcineurin and activate NFAT (nuclear factor of activated T cells). A cell-permeable TMC6 161–180 peptide competitively displaced CIB1 from TMC6 and augmented hypertrophy in wild-type but not Tmc6 knockout cardiomyocytes, indicating a dominant-negative mechanism. Therapeutically, AAV9-cTnT-TMC6 restored TMC6–CIB1 engagement, suppressed calcineurin/NFAT readouts, and improved function after pressure overload. CONCLUSIONS: TMC6 is an endogenous brake on pathological hypertrophy that restrains CIB1-calcineurin/NFAT signaling via endoplasmic reticulum sequestration of CIB1. Restoring full-length TMC6 mitigates pressure-overload remodeling, nominating the TMC6–CIB1 axis as a therapeutic target.
Fields of Study & Subjects
Cardiac electrophysiology and arrhythmias
Congenital heart defects research
Cardiomyopathy and Myosin Studies
Publication details
- Journal / source
- Circulation Research
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Volume
- 138
- Issue
- 7
- Pages
- e327680–e327680
- Publication date
- 25 February 2026
- Language
- EN