钙释放缺乏综合征：一种新出现的ryanodinopathy
Calcium release deficiency syndrome: an emerging ryanodinopathy.
摘要(中文译文)
心脏雷诺定受体（RyR2）是维持正常心脏收缩所必需的关键钙释放通道。RyR2功能失调是多种心脏疾病的重要致病因素，尤其是心律失常和心力衰竭。RyR2相关疾病（雷诺定病）的临床谱系已超出早已确立的、由功能获得（GOF）突变所致 catecholaminergic polymorphic ventricular tachycardia（CPVT）的范畴。近期研究现已阐明另外两种不同的临床实体：外显子3缺失综合征（E3DS），表现为CPVT伴结构异常；以及钙释放缺乏综合征（CRDS），由功能丧失（LOF）突变所致。CRDS的特征是肌浆网钙释放受损，与经典型CPVT表型存在本质差异，因此其诊断、临床管理和治疗干预需要采取不同的策略。本综述全面概述了目前对CRDS的认识。我们讨论其临床表现，审视其潜在分子机制，评估现有诊断策略，并探索潜在治疗途径。通过综合最新研究结果，本综述旨在阐明RyR2介导病理的复杂性，并推动这一不断发展领域的进一步进展。
Abstract
The cardiac ryanodine receptor (RyR2) is a critical calcium release channel essential for normal cardiac contraction. Dysregulation of RyR2 function is a key pathogenic factor in various cardiac diseases, notably arrhythmias and heart failure. The clinical spectrum of RyR2-related diseases (ryanodinopathy) has expanded beyond the well-established gain-of-function (GOF) mutations causing catecholaminergic polymorphic ventricular tachycardia (CPVT). Recent research has now delineated two additional distinct clinical entities: exon 3 deletion syndrome (E3DS), which presents with CPVT along with structural abnormalities, and calcium release deficiency syndrome (CRDS), caused by loss-of-function (LOF) mutations. CRDS is characterized by impaired calcium release from the sarcoplasmic reticulum and fundamentally differs from the classical CPVT phenotype, necessitating distinct approaches to its diagnosis, clinical management, and therapeutic intervention. This review provides a comprehensive overview of the current understanding of CRDS. We discuss its clinical manifestations, scrutinize the underlying molecular mechanisms, evaluate available diagnostic strategies, and explore potential therapeutic avenues. By synthesizing latest findings, this review aims to illuminate the complexities of RyR2-mediated pathologies and foster further progress in this evolving field.
如何引用
AMA
Kaiyang Gao, Lan Tao, Xiaoqing Li, Baihe Li, Nike Li, Jinhong Wei. Calcium release deficiency syndrome: an emerging ryanodinopathy.. Frontiers in molecular biosciences. 2026; doi:10.3389/fmolb.2026.1810279.
APA
Kaiyang Gao, Lan Tao, Xiaoqing Li, Baihe Li, Nike Li, Jinhong Wei (2026). Calcium release deficiency syndrome: an emerging ryanodinopathy.. Frontiers in molecular biosciences. https://doi.org/10.3389/fmolb.2026.1810279
GB/T 7714
Kaiyang Gao, Lan Tao, Xiaoqing Li, Baihe Li, Nike Li, Jinhong Wei. Calcium release deficiency syndrome: an emerging ryanodinopathy.[J]. Frontiers in molecular biosciences, 2026 doi:10.3389/fmolb.2026.1810279.
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