Why the study?
The molecular mechanisms linking TRPM4 channel gain- or loss-of-function variants to clinical phenotypes such as conduction defects, Brugada syndrome, and congenital long QT syndrome remain poorly understood.
This review summarizes current knowledge on the genetic background and molecular mechanisms of TRPM4 channelopathies in inherited cardiac arrhythmias.
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Complicates arrhythmia risk assessment from TRPM4 variants; leaves open mechanistic studies to guide future therapies.
gene have been identified in patients with different forms of cardiac disorders such as conduction defects, Brugada syndrome, and congenital long QT syndrome. At the cellular level, these variants induce either gain- or loss-of-function of TRPM4 channels for similar clinical phenotypes. However, the molecular mechanisms associating these functional alterations to the clinical phenotypes remain poorly understood. The main objective of this article is to review the major cardiac TRPM4 channelopathies and recent advances regarding their genetic background and the underlying molecular mechanisms.
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Amarouch et al. (2020) studied this question.
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