Key result
RRAD mutation causes Brugada syndrome features by disrupting Na+ currents and cardiomyocyte cytoskeleton.
Identifies RRAD as a potential new susceptibility gene for Brugada syndrome, demonstrating that its mutation causes electrical and cytoskeletal defects in iPSC-derived cardiomyocytes.
RRAD variants merit exploration as Brugada candidates; leaves open clinical relevance pending human validation.
This study identified a potential new BrS-susceptibility gene, RRAD. Cardiomyocytes derived from induced pluripotent stem cells expressing RRAD variant recapitulated single-cell electrophysiological features of BrS, including altered Na+ current, as well as cytoskeleton disturbances.
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Belbachir et al. (2019) studied this question. An RRAD mutation causes Brugada syndrome electrophysiological features, including altered Na+ currents and cytoskeletal disturbances, in patient-derived cardiomyocytes.
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