Chelu Mihail G, Danila Cristina I, Gilman Charles P, Hamilton Susan L
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas 77030, USA.
Trends Cardiovasc Med. 2004 Aug;14(6):227-34. doi: 10.1016/j.tcm.2004.06.003.
Ryanodine receptors (RyRs) are the major sarcoplasmic reticulum calcium-release channels required for excitation-contraction coupling in skeletal and cardiac muscle. Mutations in RyRs have been linked to several human diseases. Mutations in the cardiac isoform of RyR2 are associated with catecholaminergic polymorphic ventricular arrhythmias (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2), whereas mutations in the skeletal muscle isoform (RyR1) are linked to malignant hyperthermia (MH) and central core disease (CCD). RyRs are modulated by several other proteins, including the FK506 binding proteins (FKBPs), FKBP12 and FKBP12.6. These immunophilins appear to stabilize a closed state of the channel and are important for cooperative interactions among the subunits of RyRs. This review discusses the regulation of RyRs by FKBPs and the possibility that defective modulation of RyR2 by FKBP12.6 could play a role in heart failure, CPVT, and ARVD2. Also discussed are the consequences of FKBP12 depletion to skeletal muscle and the possibility of FKBP12 involvement in certain forms of MH or CCD.
兰尼碱受体(RyRs)是骨骼肌和心肌兴奋-收缩偶联所需的主要肌浆网钙释放通道。RyRs的突变与多种人类疾病有关。RyR2心脏亚型的突变与儿茶酚胺能多形性室性心律失常(CPVT)和致心律失常性右室发育不良2型(ARVD2)相关,而骨骼肌亚型(RyR1)的突变与恶性高热(MH)和中央轴空病(CCD)有关。RyRs受其他几种蛋白质调节,包括FK506结合蛋白(FKBPs)、FKBP12和FKBP12.6。这些亲免素似乎能稳定通道的关闭状态,对RyRs亚基之间的协同相互作用很重要。本综述讨论了FKBPs对RyRs的调节作用,以及FKBP12.6对RyR2的调节缺陷可能在心力衰竭、CPVT和ARVD2中起作用的可能性。还讨论了FKBP12缺失对骨骼肌的影响以及FKBP12参与某些形式的MH或CCD的可能性。