Key result
Heterozygous PKP-2 mutations in ARVC patients are associated with reduced connexin43 expression and abnormal localization to the intercalated disk.
Why the study?
Do heterozygous PKP-2 mutations alter the expression and localization of connexin43 in patients with arrhythmogenic right ventricular cardiomyopathy?
Population
27 patients with arrhythmogenic right ventricular cardiomyopathy undergoing PKP-2 gene sequencing, and mouse…
Design
Preclinical
Authors
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Hypothesis-generating for connexin43-targeted therapy in ARVC; requires prospective validation before clinical consideration.
Observational (n=27)
Do heterozygous PKP-2 mutations alter the expression and localization of connexin43 in patients with arrhythmogenic right ventricular cardiomyopathy?
Heterozygous PKP-2 mutations in ARVC are associated with reduced connexin43 expression and abnormal localization at the intercalated disk, providing a potential mechanism for delayed conduction and arrhythmogenesis.
Fidler et al. (2008) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=27). Heterozygous PKP-2 mutations was evaluated on Expression and localization of connexin43. Heterozygous PKP-2 mutations in ARVC patients are associated with reduced connexin43 expression and abnormal localization to the intercalated disk.
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