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Review

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action

Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editors: Paolo Bernardi, Luca Scorrano and Gerardo Z. Lederkremer
Cells 2022, 11(3), 416; https://doi.org/10.3390/cells11030416
Received: 10 December 2021 / Revised: 15 January 2022 / Accepted: 20 January 2022 / Published: 25 January 2022
(This article belongs to the Special Issue 10th Anniversary of Cells—Advances in Organelle Function)
The most common clinical tachyarrhythmia, atrial fibrillation (AF), is present in 1–2% of the population. Although common risk factors, including hypertension, diabetes, and obesity, frequently underlie AF onset, it has been recognized that in 15% of the AF population, AF is familial. In these families, genome and exome sequencing techniques identified variants in the non-coding genome (i.e., variant regulatory elements), genes encoding ion channels, as well as genes encoding cytoskeletal (-associated) proteins. Cytoskeletal protein variants include variants in desmin, lamin A/C, titin, myosin heavy and light chain, junctophilin, nucleoporin, nesprin, and filamin C. These cytoskeletal protein variants have a strong association with the development of cardiomyopathy. Interestingly, AF onset is often represented as the initial manifestation of cardiac disease, sometimes even preceding cardiomyopathy by several years. Although emerging research findings reveal cytoskeletal protein variants to disrupt the cardiomyocyte structure and trigger DNA damage, exploration of the pathophysiological mechanisms of genetic AF is still in its infancy. In this review, we provide an overview of cytoskeletal (-associated) gene variants that relate to genetic AF and highlight potential pathophysiological pathways that drive this arrhythmia. View Full-Text
Keywords: atrial fibrillation; genetics; cytoskeletal proteins; cardiomyocytes; DNA damage atrial fibrillation; genetics; cytoskeletal proteins; cardiomyocytes; DNA damage
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MDPI and ACS Style

van Wijk, S.W.; Su, W.; Wijdeveld, L.F.J.M.; Ramos, K.S.; Brundel, B.J.J.M. Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action. Cells 2022, 11, 416. https://doi.org/10.3390/cells11030416

AMA Style

van Wijk SW, Su W, Wijdeveld LFJM, Ramos KS, Brundel BJJM. Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action. Cells. 2022; 11(3):416. https://doi.org/10.3390/cells11030416

Chicago/Turabian Style

van Wijk, Stan W., Wei Su, Leonoor F.J.M. Wijdeveld, Kennedy S. Ramos, and Bianca J.J.M. Brundel. 2022. "Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action" Cells 11, no. 3: 416. https://doi.org/10.3390/cells11030416

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