Ryanodine receptor dysfunction in human disorders
Ryanodine receptor dysfunction in human disorders
复制标题
DOI：
10.1016/j.bbamcr.2018.07.011
复制
发表时间：
2018-11-01
影响因子：
5.1
通讯作者：
Marks, Andrew R.
中科院分区：
文献类型：
--
作者：
Kushnir, Alexander;Wajsberg, Benjamin;Marks, Andrew R.
细胞内钙（Ca 2+）的调节在所有细胞类型中都至关重要。Ryanodine受体（RyR）是位于肌浆网/内质网（SR/ER）上的细胞内Ca 2+释放通道，从细胞内储存释放Ca 2+以激活包括肌肉收缩和神经递质释放的关键功能。RyR介导的Ca 2+处理功能障碍与遗传性和非遗传性疾病的发病机制有关，包括心力衰竭、心律失常、骨骼肌病变、糖尿病和神经退行性疾病。在这里，我们已经审查了人类疾病与RyR功能障碍的证据，并描述了RyR靶向治疗的新方法。
Regulation of intracellular calcium (Ca2+) is critical in all cell types. The ryanodine receptor (RyR), an intracellular Ca2+ release channel located on the sarco/endoplasmic reticulum (SR/ER), releases Ca2+ from intracellular stores to activate critical functions including muscle contraction and neurotransmitter release. Dysfunctional RyR-mediated Ca2+ handling has been implicated in the pathogenesis of inherited and non-inherited conditions including heart failure, cardiac arrhythmias, skeletal myopathies, diabetes, and neurode-generative diseases. Here we have reviewed the evidence linking human disorders to RyR dysfunction and describe novel approaches to RyR-targeted therapeutics.