Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/{beta}-catenin pathway

Conclusion
Our results suggest that R225Q variant is associated with increased susceptibility to DCM. Ageing could enhance this process via activating WNT/β-catenin signaling in response to increased intracellular pH. Antagonising the WNT/β-catenin pathway might be a potential therapeutic strategy for mitigating R225Q variant-related DCM pathogenesis.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Hu, J., Yang, K., Zhao, Y., Wei, Z., Yang, L., Gao, R., Wu, Y., Xu, L., Xu, S., Hu, K., Sun, A., Ge, J. Tags: Genotype-phenotype correlations Source Type: research