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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation. / Denti, Federico; Paludan-Müller, Christian; Olesen, Søren-Peter; Haunsø, Stig; Svendsen, Jesper Hastrup; Olesen, Morten Salling; Bentzen, Bo Hjorth; Schmitt, Nicole.

In: Personalized Medicine, Vol. 15, No. 2, 03.2018, p. 93-102.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Denti, F, Paludan-Müller, C, Olesen, S-P, Haunsø, S, Svendsen, JH, Olesen, MS, Bentzen, BH & Schmitt, N 2018, 'Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation', Personalized Medicine, vol. 15, no. 2, pp. 93-102. https://doi.org/10.2217/pme-2017-0076

APA

Denti, F., Paludan-Müller, C., Olesen, S-P., Haunsø, S., Svendsen, J. H., Olesen, M. S., Bentzen, B. H., & Schmitt, N. (2018). Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation. Personalized Medicine, 15(2), 93-102. https://doi.org/10.2217/pme-2017-0076

Vancouver

Denti F, Paludan-Müller C, Olesen S-P, Haunsø S, Svendsen JH, Olesen MS et al. Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation. Personalized Medicine. 2018 Mar;15(2):93-102. https://doi.org/10.2217/pme-2017-0076

Author

Denti, Federico ; Paludan-Müller, Christian ; Olesen, Søren-Peter ; Haunsø, Stig ; Svendsen, Jesper Hastrup ; Olesen, Morten Salling ; Bentzen, Bo Hjorth ; Schmitt, Nicole. / Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation. In: Personalized Medicine. 2018 ; Vol. 15, No. 2. pp. 93-102.

Bibtex

@article{5b18c36c42cd45809ab9ba8a132eae6d,
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 = mar,
doi = "10.2217/pme-2017-0076",
language = "English",
volume = "15",
pages = "93--102",
journal = "Personalized Medicine",
issn = "1741-0541",
publisher = "Future Medicine Ltd.",
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

C2 - 29714131

VL - 15

SP - 93

EP - 102

JO - Personalized Medicine

JF - Personalized Medicine

SN - 1741-0541

IS - 2

ER -

ID: 196038794