期刊
HEART LUNG AND CIRCULATION
卷 32, 期 7, 页码 790-797出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.hlc.2023.01.018
关键词
Gene therapy; Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor; Calsequestrin
In the past thirty years, the genetic basis of various inherited arrhythmia syndromes has been elucidated, providing insights into cardiomyocyte biology and regulatory pathways associated with cellular excitation, contraction, and repolarisation. As the understanding of genetic sequence manipulation and gene-based therapies has grown, exploring the potential of gene therapy for inherited arrhythmia has become possible. This review focuses on catechol-aminergic polymorphic ventricular tachycardia (CPVT) and discusses its clinical manifestations, genetic basis, molecular biology, and current research on gene therapy.
Over the last three decades, the genetic basis of various inherited arrhythmia syndromes has been eluci-dated, providing key insights into cardiomyocyte biology and various regulatory pathways associated with cellular excitation, contraction, and repolarisation. As varying techniques to manipulate genetic sequence, gene expression, and different cellular pathways have become increasingly defined and understood, the potential to apply various gene-based therapies to inherited arrhythmia has been explored. The promise of gene therapy has generated significant interest in the medical and lay press, providing hope for sufferers of seemingly incurable disorders to imagine a future without repeated medical intervention, and, in the case of various cardiac disorders, without the risk of sudden death. In this review, we focus on catechol-aminergic polymorphic ventricular tachycardia (CPVT), discussing the clinical manifestations, genetic basis, and molecular biology, together with current avenues of research related to gene therapy.
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