Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway.

Jingjing HuKun YangYongchao ZhaoZilun WeiLebing YangRifeng GaoYonghui WuLei XuSujuan XuKai HuAi-Jun SunJunbo Ge

Published in: Journal of medical genetics (2022)

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.

Keyphrases

cell proliferation
stem cells
reactive oxygen species
risk assessment
climate change