Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation

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Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. / Vad, Oliver Bundgaard; Yan, Yannan; Denti, Federico; Ahlberg, Gustav; Refsgaard, Lena; Bomholtz, Sofia Hammami; Santos, Joana Larupa; Rasmussen, Simon; Haunsø, Stig; Svendsen, Jesper Hastrup; Christophersen, Ingrid Elizabeth; Schmitt, Nicole; Olesen, Morten Salling; Bentzen, Bo Hjorth.

I: Frontiers in Genetics, Bind 13, 806429, 2022.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Vad, OB, Yan, Y, Denti, F, Ahlberg, G, Refsgaard, L, Bomholtz, SH, Santos, JL, Rasmussen, S, Haunsø, S, Svendsen, JH, Christophersen, IE, Schmitt, N, Olesen, MS & Bentzen, BH 2022, 'Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation', Frontiers in Genetics, bind 13, 806429. https://doi.org/10.3389/fgene.2022.806429

APA

Vad, O. B., Yan, Y., Denti, F., Ahlberg, G., Refsgaard, L., Bomholtz, S. H., Santos, J. L., Rasmussen, S., Haunsø, S., Svendsen, J. H., Christophersen, I. E., Schmitt, N., Olesen, M. S., & Bentzen, B. H. (2022). Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. Frontiers in Genetics, 13, [806429]. https://doi.org/10.3389/fgene.2022.806429

Vancouver

Vad OB, Yan Y, Denti F, Ahlberg G, Refsgaard L, Bomholtz SH o.a. Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. Frontiers in Genetics. 2022;13. 806429. https://doi.org/10.3389/fgene.2022.806429

Author

Vad, Oliver Bundgaard ; Yan, Yannan ; Denti, Federico ; Ahlberg, Gustav ; Refsgaard, Lena ; Bomholtz, Sofia Hammami ; Santos, Joana Larupa ; Rasmussen, Simon ; Haunsø, Stig ; Svendsen, Jesper Hastrup ; Christophersen, Ingrid Elizabeth ; Schmitt, Nicole ; Olesen, Morten Salling ; Bentzen, Bo Hjorth. / Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. I: Frontiers in Genetics. 2022 ; Bind 13.

Bibtex

@article{8a2430c5a3c34891928be2a0fff9ccf3,

title = "Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation",

abstract = "Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current limitation in effective treatments. We aimed to identify rare genetic variants associated with AF in patients with familial AF. Methods and results: We performed whole exome sequencing in a large family with familial AF and identified a rare variant in the gene CACNA1A c.5053G > A which co-segregated with AF. The gene encodes for the protein variants CaV2.1-V1686M, and is important in neuronal function. Functional characterization of the CACNA1A, using patch-clamp recordings on transiently transfected mammalian cells, revealed a modest loss-of-function of CaV2.1-V1686M. Conclusion: We identified a rare loss-of-function variant associated with AF in a gene previously linked with neuronal function. The results allude to a novel link between dysfunction of an ion channel previously associated with neuronal functions and increased risk of developing AF.",

author = "Vad, {Oliver Bundgaard} and Yannan Yan and Federico Denti and Gustav Ahlberg and Lena Refsgaard and Bomholtz, {Sofia Hammami} and Santos, {Joana Larupa} and Simon Rasmussen and Stig Hauns{\o} and Svendsen, {Jesper Hastrup} and Christophersen, {Ingrid Elizabeth} and Nicole Schmitt and Olesen, {Morten Salling} and Bentzen, {Bo Hjorth}",

note = "Copyright {\textcopyright} 2022 Vad, Yan, Denti, Ahlberg, Refsgaard, Bomholtz, Santos, Rasmussen, Hauns{\o}, Svendsen, Christophersen, Schmitt, Olesen and Bentzen.",

year = "2022",

doi = "10.3389/fgene.2022.806429",

language = "English",

volume = "13",

journal = "Frontiers in Genetics",

issn = "1664-8021",

publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation

AU - Vad, Oliver Bundgaard

AU - Yan, Yannan

AU - Denti, Federico

AU - Ahlberg, Gustav

AU - Refsgaard, Lena

AU - Bomholtz, Sofia Hammami

AU - Santos, Joana Larupa

AU - Rasmussen, Simon

AU - Haunsø, Stig

AU - Svendsen, Jesper Hastrup

AU - Christophersen, Ingrid Elizabeth

AU - Schmitt, Nicole

AU - Olesen, Morten Salling

AU - Bentzen, Bo Hjorth

PY - 2022

Y1 - 2022

N2 - Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current limitation in effective treatments. We aimed to identify rare genetic variants associated with AF in patients with familial AF. Methods and results: We performed whole exome sequencing in a large family with familial AF and identified a rare variant in the gene CACNA1A c.5053G > A which co-segregated with AF. The gene encodes for the protein variants CaV2.1-V1686M, and is important in neuronal function. Functional characterization of the CACNA1A, using patch-clamp recordings on transiently transfected mammalian cells, revealed a modest loss-of-function of CaV2.1-V1686M. Conclusion: We identified a rare loss-of-function variant associated with AF in a gene previously linked with neuronal function. The results allude to a novel link between dysfunction of an ion channel previously associated with neuronal functions and increased risk of developing AF.

AB - Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current limitation in effective treatments. We aimed to identify rare genetic variants associated with AF in patients with familial AF. Methods and results: We performed whole exome sequencing in a large family with familial AF and identified a rare variant in the gene CACNA1A c.5053G > A which co-segregated with AF. The gene encodes for the protein variants CaV2.1-V1686M, and is important in neuronal function. Functional characterization of the CACNA1A, using patch-clamp recordings on transiently transfected mammalian cells, revealed a modest loss-of-function of CaV2.1-V1686M. Conclusion: We identified a rare loss-of-function variant associated with AF in a gene previously linked with neuronal function. The results allude to a novel link between dysfunction of an ion channel previously associated with neuronal functions and increased risk of developing AF.

U2 - 10.3389/fgene.2022.806429

DO - 10.3389/fgene.2022.806429

M3 - Journal article

C2 - 35154276

VL - 13

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 806429

ER -

ID: 303111435