GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome

In conclusion, SCN5A-G1661R produces dysfunctional channels and associates with BrS. SCN5A mediated currents are modulated by co-expression of GDP1L and this interaction is altered by mutations in both proteins. Thus, additive genetic burden may aggravate disease severity, explaining higher arrhythmogenicity in double mutation carriers.PMID:38036776 | DOI:10.1007/s00424-023-02882-0

Source: Pflugers Archiv : European Journal of Physiology - November 30, 2023 Category: Physiology Authors: Francesca Semino Fabrice F Darche Claus Bruehl Michael Koenen Heyko Skladny Hugo A Katus Norbert Frey Andreas Draguhn Patrick A Schweizer Source Type: research