Genetic landscape of phospholamban cardiomyopathies
Phospholamban (PLN) is a key regulator of cardiac muscle contractility and has become a central focus in the study of cardiac disease. Variants in the PLN gene have been identified in patients with a wide range of phenotypes, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies. The...
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Frontiers Media S.A.
2025-06-01
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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.2025.1626242/full |
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| author | Elizabeth Vafiadaki Ishita Chaudhari Keisha Mireia Soliman Aristides G. Eliopoulos Evangelia G. Kranias Evangelia G. Kranias Despina Sanoudou Despina Sanoudou |
| author_facet | Elizabeth Vafiadaki Ishita Chaudhari Keisha Mireia Soliman Aristides G. Eliopoulos Evangelia G. Kranias Evangelia G. Kranias Despina Sanoudou Despina Sanoudou |
| author_sort | Elizabeth Vafiadaki |
| collection | DOAJ |
| description | Phospholamban (PLN) is a key regulator of cardiac muscle contractility and has become a central focus in the study of cardiac disease. Variants in the PLN gene have been identified in patients with a wide range of phenotypes, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies. The growing number of identified variants highlights the previously underappreciated role of PLN in cardiac pathophysiology. This review offers a comprehensive examination of the genetic landscape of PLN and evaluates the mechanistic effects of specific variants on cardiac function, aiming to uncover potential genotype-phenotype correlations. The rapidly expanding body of knowledge in this area is driving the development of advanced diagnostic and prognostic tools, as well as highly targeted therapeutic strategies. These advances underscore the importance of recognizing PLN’s role in cardiac disease and the value of genetic testing for accurate diagnosis, prognosis, effective management, and early risk prediction for family members. |
| format | Article |
| id | doaj-art-28bd36fb35134fc48dfc2fdfbc3d83ae |
| institution | DOAJ |
| issn | 2296-634X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj-art-28bd36fb35134fc48dfc2fdfbc3d83ae2025-08-20T03:10:20ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2025-06-011310.3389/fcell.2025.16262421626242Genetic landscape of phospholamban cardiomyopathiesElizabeth Vafiadaki0Ishita Chaudhari1Keisha Mireia Soliman2Aristides G. Eliopoulos3Evangelia G. Kranias4Evangelia G. Kranias5Despina Sanoudou6Despina Sanoudou7Center of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, GreeceClinical Genomics and Pharmacogenomics Unit, 4th Department of Internal Medicine, “Attikon” Hospital, Medical School, National and Kapodistrian University of Athens, Athens, GreeceClinical Genomics and Pharmacogenomics Unit, 4th Department of Internal Medicine, “Attikon” Hospital, Medical School, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Biology, Medical School, and GENOSOPHY S.A. spin-off company, National and Kapodistrian University of Athens, Athens, GreeceCenter of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, GreeceDepartment of Pharmacology, Physiology and Neurobiology, University of Cincinnati College of Medicine, Cincinnati, OH, United StatesCenter of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, GreeceClinical Genomics and Pharmacogenomics Unit, 4th Department of Internal Medicine, “Attikon” Hospital, Medical School, National and Kapodistrian University of Athens, Athens, GreecePhospholamban (PLN) is a key regulator of cardiac muscle contractility and has become a central focus in the study of cardiac disease. Variants in the PLN gene have been identified in patients with a wide range of phenotypes, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies. The growing number of identified variants highlights the previously underappreciated role of PLN in cardiac pathophysiology. This review offers a comprehensive examination of the genetic landscape of PLN and evaluates the mechanistic effects of specific variants on cardiac function, aiming to uncover potential genotype-phenotype correlations. The rapidly expanding body of knowledge in this area is driving the development of advanced diagnostic and prognostic tools, as well as highly targeted therapeutic strategies. These advances underscore the importance of recognizing PLN’s role in cardiac disease and the value of genetic testing for accurate diagnosis, prognosis, effective management, and early risk prediction for family members.https://www.frontiersin.org/articles/10.3389/fcell.2025.1626242/fullphospholambangenetic variantscardiomyopathiesprecision medicinegenetic testinggenetic counseling |
| spellingShingle | Elizabeth Vafiadaki Ishita Chaudhari Keisha Mireia Soliman Aristides G. Eliopoulos Evangelia G. Kranias Evangelia G. Kranias Despina Sanoudou Despina Sanoudou Genetic landscape of phospholamban cardiomyopathies Frontiers in Cell and Developmental Biology phospholamban genetic variants cardiomyopathies precision medicine genetic testing genetic counseling |
| title | Genetic landscape of phospholamban cardiomyopathies |
| title_full | Genetic landscape of phospholamban cardiomyopathies |
| title_fullStr | Genetic landscape of phospholamban cardiomyopathies |
| title_full_unstemmed | Genetic landscape of phospholamban cardiomyopathies |
| title_short | Genetic landscape of phospholamban cardiomyopathies |
| title_sort | genetic landscape of phospholamban cardiomyopathies |
| topic | phospholamban genetic variants cardiomyopathies precision medicine genetic testing genetic counseling |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2025.1626242/full |
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