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Review
. 2018 Nov;1865(11 Pt B):1687-1697.
doi: 10.1016/j.bbamcr.2018.07.011. Epub 2018 Jul 21.

Ryanodine receptor dysfunction in human disorders

Alexander Kushnir  1 , Benjamin Wajsberg  2 , Andrew R Marks  3
Affiliations
Free article
Review

Ryanodine receptor dysfunction in human disorders

Alexander Kushnir et al. Biochim Biophys Acta Mol Cell Res. 2018 Nov.
Free article

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.

Keywords: Alzheimer's disease; Arrhythmias; CPVT; Diabetes; Duchenne muscular dystrophy; Heart failure; PTSD; Sarcopenia; Sudden cardiac death.

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