Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a desmosomal disease. Desmosomes and gap junctions are important structural components of cardiac intercalated discs. The proteins plakophilin-2 (PKP-2) and connexin43 (Cx43) are components of desmosomes and gap junctions, respectively. This study was conducted to determine whether Cx43 expression is affected by the mutation of the PKP-2 gene in patients with ARVC. A novel mutation was detected in a typical patient with ARVC. The mutated gene was transfected into rat mesenchymal stem cells expressing Cx43 through a pReversied-M-29 plasmid. Cx43 expression was detected using quantitative polymerase chain reaction analysis. Cx43 expression was significantly decreased in the mutant PKP-2 group compared with that in the wild-type PKP-2 group. In conclusion, PKP-2 affected Cx43 expression at the gene transcription level in the patient with ARVC.
Highlights
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial disease that is characterized by right ventricular fibrofatty degeneration, which promotes right ventricular dysfunction and arrhythmogenesis [1,2,3]
RT‐polymerase chain reaction (PCR) was used to detect the differential expression of PKP‐2 mRNA
The level of mRNA expression observed in the mutant PKP‐2 group was significantly lower than that in the wild‐type group (Fig. 2)
Summary
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial disease that is characterized by right ventricular fibrofatty degeneration, which promotes right ventricular dysfunction and arrhythmogenesis [1,2,3]. Given that mutations in desmosomal proteins, including desmin, desmoplakin, desmoglein, desmocollin, plakoglobin and plakophilin‐2 (PKP‐2), are important in the pathogenesis of ARVC, this condition has been termed a desmosomal disease [5,6,7]. Cardiomyocytes are held together at so‐called intercalated discs, which are composed of gap junctions, fascia adherens junctions and desmosomes. The mechanical stability of the gap junction is provided by the more rigid structure of adherens junctions and desmosomes co‐localized in the intercalated disc region. PKP‐2 is an important desmosomal protein that interacts with plakoglobin [11]. We detected a mutation in the PKP‐2 gene in a Chinese patient with ARVC [12]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
