Vafiadaki Elizabeth, Chaudhari Ishita, Soliman Keisha Mireia, Eliopoulos Aristides G, Kranias Evangelia G, Sanoudou Despina
Center of Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Clinical Genomics and Pharmacogenomics Unit, 4th Department of Internal Medicine, "Attikon" Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Front Cell Dev Biol. 2025 Jun 10;13:1626242. doi: 10.3389/fcell.2025.1626242. eCollection 2025.
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.
受磷蛋白（PLN）是心肌收缩力的关键调节因子，已成为心脏病研究的核心焦点。在患有多种表型的患者中已鉴定出PLN基因的变体，包括肥厚型、扩张型和致心律失常性心肌病。已鉴定变体数量的不断增加凸显了PLN在心脏病理生理学中先前未被充分认识的作用。本综述全面审视了PLN的遗传格局，并评估了特定变体对心脏功能的机制影响，旨在揭示潜在的基因型-表型相关性。该领域迅速扩展的知识体系正在推动先进诊断和预后工具以及高度靶向治疗策略的发展。这些进展强调了认识到PLN在心脏病中的作用的重要性，以及基因检测对于准确诊断、预后、有效管理和对家庭成员进行早期风险预测的价值。
