Key result
DSP mutations caused desmosomal dysfunction, leading to embryonic lethality or ARVD/C-like phenotypes including cardiomyocyte apoptosis, fibrosis, and ventricular dysfunction in transgenic mice.
In vitro and in vivo models demonstrate that DSP mutations disrupt desmosome function and cause ARVD/C phenotypes, establishing a causal relationship.
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DSP mutations may guide future ARVD/C therapies in models; leaves open human translation and clinical impact.
Zhao et al. (2006) studied Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) (n=66). DSP mutations (V30M, Q90R, W233X, and R2834H) vs. Wild-type (WT) DSP was evaluated on In vitro protein localization and in vivo cardiac morphology and function. DSP mutations caused desmosomal dysfunction, leading to embryonic lethality or ARVD/C-like phenotypes including cardiomyocyte apoptosis, fibrosis, and ventricular dysfunction in transgenic mice.
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