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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Zhou, Yi-Meng Qiu, Xing-Biao Xue, Song Yang, Yi-Qing Huang, Ri-Tai Dai, Xiao-Yong Xu, Ying-Jia |
| Description | Author Affiliation: Zhou YM ( Department of Emergency Medicine, Yangpu Hospital, Tongji University School of Medicine, Shanghai 200090, P.R. China.); Dai XY ( Department of Emergency Medicine, Yangpu Hospital, Tongji University School of Medicine, Shanghai 200090, P.R. China.); Huang RT ( Department of Cardiovascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, P.R. China.); Xue S ( Department of Cardiovascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, P.R. China.); Xu YJ ( Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.); Qiu XB ( Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.); Yang YQ ( Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.) |
| Abstract | Dilated cardiomyopathy (DCM) is the most prevalent form of primary cardiomyopathy in humans and is a leading cause of heart failure and sudden cardiac death. Genetic abnormalities have been demonstrated to be a major contributor to the development of DCM. However, DCM is a genetically heterogeneous disease, and the genetic basis underlying DCM in a significant proportion of patients remains unclear. In the current study, the coding exons and splicing junction sites of the TBox 20 (TBX20) gene, which encodes a Tbox transcription factor essential for cardiac morphogenesis and structural remodeling, were sequenced in 115 unrelated patients with idiopathic DCM, and a novel heterozygous mutation, p.E143X, was identified in one patient. Genetic analysis of the mutation carrier's pedigree indicated that the nonsense mutation was present in all the living family members with DCM, and also in a female patient with a congenital atrial septal defect. The mutation, which was predicted to generate a truncated protein with only the Nterminus and a fraction of the Tbox domain remaining, was absent in 800 control chromosomes. Functional assays using a dualluciferase reporter assay system revealed that the truncated TBX20 protein had no transcriptional activity in contrast to its wildtype counterpart. Furthermore, the mutation abolished the synergistic activation between TBX20 and NK2 homeobox 5, or between TBX20 and GATA binding protein 4. The observations of the current study expand the mutation spectrum of TBX20 associated with DCM and congenital heart disease (CHD), which provide novel insight into the molecular mechanisms underlying DCM and CHD, suggesting the potential implications for the effective and personalized treatment of these diseases. |
| ISSN | 17912997 |
| e-ISSN | 17913004 |
| Journal | Molecular Medicine Reports |
| Issue Number | 4 |
| Volume Number | 14 |
| Language | English |
| Publisher | Spandidos Publications |
| Publisher Date | 2016-10-01 |
| Publisher Place | Greece |
| Access Restriction | Open |
| Subject Keyword | Discipline Molecular Biology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology |
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