Ryanodine receptor dysfunction in human disorders |
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| Authors: | Alexander Kushnir Benjamin Wajsberg Andrew R. Marks |
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| Affiliation: | 1. Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA;2. Department of Medicine, Division of Cardiology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA |
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| Abstract: | 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 neurodegenerative diseases. Here we have reviewed the evidence linking human disorders to RyR dysfunction and describe novel approaches to RyR-targeted therapeutics. |
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| Keywords: | Heart failure Diabetes Duchenne muscular dystrophy PTSD Sudden cardiac death CPVT Arrhythmias Alzheimer's disease Sarcopenia |
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