SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 GeneticVariation phenotype BEFREE To test the hypothesis that the SCO2 mutation is associated with mitochondrial abnormalities, and intracellular Ca<sup>2+</sup> -overload resulting in functional derangements and arrhythmias, we investigated in SCO2-mutated iPSC-CMs (compared to control cardiomyocytes): (i) the ultrastructural changes; (ii) the inotropic responsiveness to β-adrenergic stimulation, increased [Ca<sup>2+</sup> ]<sub>o</sub> and angiotensin-II (AT-II); and (iii) the Beat Rate Variability (BRV) characteristics. 29193756 2018