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

We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (SCN5A R225Q variant) and environmental factors (age and other pathogenic factors), and elucidated the underlying pathogenic mechanism (elevated intercellular pH and WNT/β-catenin pathway activation). Therefore, for patients with dilated cardiomyopathy carrying some cardiac sodium channel gene mutations which might cause pH elevation, such as SCN5A R225Q variant, the corresponding pathway inhibitor (WNT-C59) might be used to improve cardiac function and reduce mortality in the future. (By Professor Aijun Sun, https://jmg.bmj.com/content/early/2022/06/14/jmedgenet-2021-108396 )

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