Department of Physiology & Pharmacology, Karolinska Institutet, von Eulersväg 8, 171 77 Stockholm, Sweden.
Adv Exp Med Biol. 2012;740:217-34. doi: 10.1007/978-94-007-2888-2_9.
The ryanodine receptors (RyRs) is the major intracellular Ca(2+) release channel localized in the plasma membrane of the endoplasmatic/sarcoplasmatic reticulum. RyR-mediated Ca(2+) release is crucial for every heart beat and skeletal muscle contraction and also important in learning and memory. Given the important role RyR has in physiological functions it is not surprising that dysregulation and impaired RyR channel function contributes to severe pathologies e.g. cardiac arrhythmias and Alzheimer's disease. Mutations in the RyR channels are associated with a number of human disorders e.g. malignant hyperthermia (MH) and central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia (ARVD). RyRs are modulated directly and indirectly by various ions, small molecules and proteins and RyR structure and function are expected to be defined within this macromolecular set of interactions. This article discusses the physiological function of RyR and examines its role in disorders and diseases.
兰尼碱受体（RyRs）是主要的细胞内 Ca²⁺释放通道，位于内质网/肌浆网的质膜上。RyR 介导的 Ca²⁺释放对每一次心跳和骨骼肌收缩都至关重要，在学习和记忆中也很重要。鉴于 RyR 在生理功能中的重要作用，RyR 通道功能的失调和受损会导致严重的病理情况，如心律失常和阿尔茨海默病，这并不奇怪。RyR 通道的突变与许多人类疾病有关，如恶性高热（MH）和中央核心疾病（CCD）、儿茶酚胺多形性室性心动过速（CPVT）和致心律失常性右室发育不良（ARVD）。各种离子、小分子和蛋白质直接和间接调节 RyR，RyR 的结构和功能预计将在这个大分子相互作用组中确定。本文讨论了 RyR 的生理功能，并研究了其在疾病中的作用。
