title: Function of a novel plakophilin-2 mutation in the abnormal expression of connexin43 in a patient with arrhythmogenic right ventricular cardiomyopathy.
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.
authors: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China.
authors: Pei-Ning
authors: PN
authors: Wang
authors: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China.
authors: Shu-Lin
authors: SL
authors: Wu
authors: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China.
authors: Bin
authors: B
authors: Zhang
authors: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China.
authors: Qiu-Xiong
authors: QX
authors: Lin
authors: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China.
authors: Zhi-Xin
authors: ZX
authors: Shan
keywords: arrhythmogenic right ventricular cardiomyopathy; connexin43; desmosome; gap junction; plakophilin-2 gene