Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication and clinical management and enables accurate recurrence risk counselling for the family. Here we used genomic sequencing to identify the causative genetic variant(s) in families with children affected by severe DCM.
View Article and Find Full Text PDFObjective: This study aims to investigate the callipyge gene () polymorphism in sheep of Edilbay, Volgograd, and Kalmyk breeds.
Materials And Methods: The analysis was performed by the polymerase chain reaction-restriction fragment length polymorphisms method. The objects of the study were Edilbay fat-tailed sheep ( = 500) at the breeding plant Volgograd-Edilbay (Volgograd region), Volgograd fine-wool sheep ( = 500) at the breeding plant Romashkovskiy (Volgograd region), and Kalmyk fat-tailed sheep ( = 500) at the breeding plant Kirovsky (the Republic of Kalmykia, Yashkul rayon).
Aberrant expression of the cardiac gap junction protein connexin-43 (Cx43) has been suggested as playing a role in the development of cardiac disease in the mdx mouse model of Duchenne muscular dystrophy (DMD); however, a mechanistic understanding of this association is lacking. Here, we identified a reduction of phosphorylation of Cx43 serines S325/S328/S330 in human and mouse DMD hearts. We hypothesized that hypophosphorylation of Cx43 serine-triplet triggers pathological Cx43 redistribution to the lateral sides of cardiomyocytes (remodeling).
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