Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

“… 73 In addition, it has already been reported that genetically altered mice overexpressing calmodulin develop severe cardiac conditions caused by increased autonomous activity of CaMKII in vivo . 74 This observation is in line with manifestation of heart anomaly observed in patient 1. The deregulated phosphorylation of protein kinase A, protein kinase C, and β-adrenergic receptor kinases also suggest abnormalities in the signal transduction in patient cells causing neurological conditions.…”

A comprehensive overview of the complex world of the endo- and sarcoplasmic reticulum Ca2+-leak channels

“…Mutations causing RyR hypersensitization and leakage of Ca 2+ from the SR primarily correlate with a range of myopathies and cardiac disorders. Mutations in the RyR1 gene are associated with myopathies such as central core disease and malignant hyperthermia [65][66][67], while mutations in the gene encoding RyR2 are especially associated with arrhythmogenic syndromes, such as catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy type 2 [68][69][70].…”

RyR2 disease mutations at the C-terminal domain intersubunit interface alter closed-state stability and channel activation

“…CPVT is characterized by emotional or physical stress–induced ventricular arrhythmias and sudden death in structurally normal hearts ( 11 , 14 , 15 , 16 , 17 ). RyR2 mutations have also been associated with cardiomyopathies as well as cardiac arrhythmias ( 11 , 16 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ). To date, more than 300 RyR2 missense/nonsense mutations have been reported in the Human Gene Mutation Database ( http://www.hgmd.cf.ac.uk/ac/index.php ).…”