Function of a novel plakophilin-2 mutation in the abnormal expression of connexin43 in a patient with arrhythmogenic right ventricular cardiomyopathy

Wang,Pei‑Ning; Wu,Shu‑Lin; Zhang,Bin; Lin,Qiu‑Xiong; Shan,Zhi‑Xin

doi:10.3892/etm.2014.2145

March-2015 Volume 9 Issue 3

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March-2015 Volume 9 Issue 3

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Article

Function of a novel plakophilin-2 mutation in the abnormal expression of connexin43 in a patient with arrhythmogenic right ventricular cardiomyopathy

Authors:
- Pei‑Ning Wang
- Shu‑Lin Wu
- Bin Zhang
- Qiu‑Xiong Lin
- Zhi‑Xin Shan
View Affiliations / Copyright

Affiliations: Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Academy of Medical Science, Guangdong General Hospital, Guangzhou, Guangdong 510100, P.R. China
Pages: 967-971
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Published online on: December 18, 2014

https://doi.org/10.3892/etm.2014.2145
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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.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Function of a novel plakophilin-2 mutation in the abnormal expression of connexin43 in a patient with arrhythmogenic right ventricular cardiomyopathy

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