Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation

Federico Denti, Christian Paludan-Müller, Søren-Peter Olesen, Stig Haunsø, Jesper Hastrup Svendsen, Morten Salling Olesen, Bo Hjorth Bentzen, Nicole Schmitt

    4 Citations (Scopus)

    Abstract

    AIM: We investigated the effect of variants in genes encoding sodium channel modifiers SNTA1 and GPD1L found in early onset atrial fibrillation (AF) patients.

    PATIENTS & METHODS: Genetic screening in patients with early onset lone AF revealed three variants in GPD1L and SNTA1 in three AF patients. Functional analysis was performed by patch-clamp electrophysiology.

    RESULTS: Co-expression of GPD1L or its p.A326E variant with NaV1.5 did not alter INa density or current kinetics. SNTA1 shifted the peak-current by -5 mV. The SNTA1-p.A257G variant significantly increased INa. SNTA1-p.P74L did not produce functional changes.

    CONCLUSION: Although genetic variation of sodium channel modifiers may contribute to development of AF at a molecular level, it is unlikely a monogenic cause of the disease.

    Original languageEnglish
    JournalPreventive Medicine Reports
    Volume15
    Issue number2
    Pages (from-to)93-102
    Number of pages10
    ISSN1741-0541
    DOIs
    Publication statusPublished - Mar 2018

    Fingerprint

    Dive into the research topics of 'Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation'. Together they form a unique fingerprint.

    Cite this