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

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@article{38c925ee57e84b7db089b482415d22cc,
title = "Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation",
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.",
author = "Federico Denti and Christian Paludan-M{\"u}ller and S{\o}ren-Peter Olesen and Stig Hauns{\o} and Svendsen, {Jesper Hastrup} and Olesen, {Morten Salling} and Bentzen, {Bo Hjorth} and Nicole Schmitt",
year = "2018",
month = "3",
doi = "10.2217/pme-2017-0076",
language = "English",
volume = "15",
pages = "93--102",
journal = "Personalized Medicine",
issn = "0091-7435",
publisher = "Academic Press",
number = "2",

}

RIS

TY - JOUR

T1 - Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation

AU - Denti, Federico

AU - Paludan-Müller, Christian

AU - Olesen, Søren-Peter

AU - Haunsø, Stig

AU - Svendsen, Jesper Hastrup

AU - Olesen, Morten Salling

AU - Bentzen, Bo Hjorth

AU - Schmitt, Nicole

PY - 2018/3

Y1 - 2018/3

N2 - 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.

AB - 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.

U2 - 10.2217/pme-2017-0076

DO - 10.2217/pme-2017-0076

M3 - Journal article

VL - 15

SP - 93

EP - 102

JO - Personalized Medicine

JF - Personalized Medicine

SN - 0091-7435

IS - 2

ER -

ID: 54874733