| First Author | Hamada Y | Year | 2020 |
| Journal | Biochem Biophys Rep | Volume | 21 |
| Pages | 100711 | PubMed ID | 31872082 |
| Mgi Jnum | J:285432 | Mgi Id | MGI:6392965 |
| Doi | 10.1016/j.bbrep.2019.100711 | Citation | Hamada Y, et al. (2020) G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model. Biochem Biophys Rep 21:100711 |
| abstractText | Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease that causes heart failure and/or sudden cardiac death. Several desmosomal genes (DSC2, PKG, PKP2, DSP, and RyR2) are thought to be the causative gene involved in ARVC. Out of them, DSC2 mutations account for 2% of ARVC genetic abnormalities. This study aimed to clarify the effect of G790del mutation in DSC2 on the arrhythmogenic mechanism and cardiac function in a mouse model. Result: Neither the heterozygous +/G790del nor homozygous G790del/G790del mice showed structural and functional defects in the right ventricle (RV) or lethal arrhythmia. The homozygous G790del/G790del 6-month-old mice slightly showed left ventricular (LV) dysfunction. Cell shortening decreased with prolongation of intracellular Ca2+ transient in cardiomyocytes isolated from the homozygous G790del/G790del mice, and spontaneous Ca(2+) transients were frequently observed in response to isoproterenol. Conclusions: G790del mutation in DSC2 was not relevant to the pathogenesis of ARVC, but showed a slight contractile dysfunction and Ca(2+) dysregulation in the LV. |
