Desmin variants: Trigger for cardiac arrhythmias?
Desmin (DES) is a classical type III intermediate filament protein encoded by the DES gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells. In these cells, desmin interconnects several protein-protein complexes that cover cell-cell contact, intracellular organelles such...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2022.986718/full |
| _version_ | 1798003363021848576 |
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| author | Wei Su Wei Su Stan W. van Wijk Stan W. van Wijk Bianca J. J. M. Brundel Bianca J. J. M. Brundel |
| author_facet | Wei Su Wei Su Stan W. van Wijk Stan W. van Wijk Bianca J. J. M. Brundel Bianca J. J. M. Brundel |
| author_sort | Wei Su |
| collection | DOAJ |
| description | Desmin (DES) is a classical type III intermediate filament protein encoded by the DES gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells. In these cells, desmin interconnects several protein-protein complexes that cover cell-cell contact, intracellular organelles such as mitochondria and the nucleus, and the cytoskeletal network. The extra- and intracellular localization of the desmin network reveals its crucial role in maintaining the structural and mechanical integrity of cells. In the heart, desmin is present in specific structures of the cardiac conduction system including the sinoatrial node, atrioventricular node, and His-Purkinje system. Genetic variations and loss of desmin drive a variety of conditions, so-called desminopathies, which include desmin-related cardiomyopathy, conduction system-related atrial and ventricular arrhythmias, and sudden cardiac death. The severe cardiac disease outcomes emphasize the clinical need to understand the molecular and cellular role of desmin driving desminopathies. As the role of desmin in cardiomyopathies has been discussed thoroughly, the current review is focused on the role of desmin impairment as a trigger for cardiac arrhythmias. Here, the molecular and cellular mechanisms of desmin to underlie a healthy cardiac conduction system and how impaired desmin triggers cardiac arrhythmias, including atrial fibrillation, are discussed. Furthermore, an overview of available (genetic) desmin model systems for experimental cardiac arrhythmia studies is provided. Finally, potential implications for future clinical treatments of cardiac arrhythmias directed at desmin are highlighted. |
| first_indexed | 2024-04-11T12:06:11Z |
| format | Article |
| id | doaj.art-8e11669e2b4d42509808a1f70baa3774 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-04-11T12:06:11Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-8e11669e2b4d42509808a1f70baa37742022-12-22T04:24:42ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2022-09-011010.3389/fcell.2022.986718986718Desmin variants: Trigger for cardiac arrhythmias?Wei Su0Wei Su1Stan W. van Wijk2Stan W. van Wijk3Bianca J. J. M. Brundel4Bianca J. J. M. Brundel5Physiology, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsPhysiology, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsPhysiology, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, NetherlandsDesmin (DES) is a classical type III intermediate filament protein encoded by the DES gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells. In these cells, desmin interconnects several protein-protein complexes that cover cell-cell contact, intracellular organelles such as mitochondria and the nucleus, and the cytoskeletal network. The extra- and intracellular localization of the desmin network reveals its crucial role in maintaining the structural and mechanical integrity of cells. In the heart, desmin is present in specific structures of the cardiac conduction system including the sinoatrial node, atrioventricular node, and His-Purkinje system. Genetic variations and loss of desmin drive a variety of conditions, so-called desminopathies, which include desmin-related cardiomyopathy, conduction system-related atrial and ventricular arrhythmias, and sudden cardiac death. The severe cardiac disease outcomes emphasize the clinical need to understand the molecular and cellular role of desmin driving desminopathies. As the role of desmin in cardiomyopathies has been discussed thoroughly, the current review is focused on the role of desmin impairment as a trigger for cardiac arrhythmias. Here, the molecular and cellular mechanisms of desmin to underlie a healthy cardiac conduction system and how impaired desmin triggers cardiac arrhythmias, including atrial fibrillation, are discussed. Furthermore, an overview of available (genetic) desmin model systems for experimental cardiac arrhythmia studies is provided. Finally, potential implications for future clinical treatments of cardiac arrhythmias directed at desmin are highlighted.https://www.frontiersin.org/articles/10.3389/fcell.2022.986718/fulldesmincardiac arrhtyhmiascardiac conduction systemdesmosomesDES gene variants |
| spellingShingle | Wei Su Wei Su Stan W. van Wijk Stan W. van Wijk Bianca J. J. M. Brundel Bianca J. J. M. Brundel Desmin variants: Trigger for cardiac arrhythmias? Frontiers in Cell and Developmental Biology desmin cardiac arrhtyhmias cardiac conduction system desmosomes DES gene variants |
| title | Desmin variants: Trigger for cardiac arrhythmias? |
| title_full | Desmin variants: Trigger for cardiac arrhythmias? |
| title_fullStr | Desmin variants: Trigger for cardiac arrhythmias? |
| title_full_unstemmed | Desmin variants: Trigger for cardiac arrhythmias? |
| title_short | Desmin variants: Trigger for cardiac arrhythmias? |
| title_sort | desmin variants trigger for cardiac arrhythmias |
| topic | desmin cardiac arrhtyhmias cardiac conduction system desmosomes DES gene variants |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2022.986718/full |
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