title: Role of cardiac TBX20 in dilated cardiomyopathy.
abstract: Dilated cardiomyopathy (DCM) is an important cause of heart failure and sudden cardiac death worldwide. Transcription factor TBX20 has been shown to play a crucial role in cardiac development and maintenance of adult mouse heart. Recent studies suggest that TBX20 may have a role in pathophysiology of DCM. In the present study, we examined TBX20 expression in idiopathic DCM patients and in an animal model of cardiomyopathy, and studied its correlation with echocardiographic indices of LV function. Endomyocardial biopsies (EMBs) from intraventricular septal from the right ventricle region were obtained from idiopathic DCM patients (IDCM, n = 30) and from patients with ventricular septal defect (VSD, n = 14) with normal LVEF who served as controls. An animal model of DCM was developed by right renal artery ligation in Wistar rats. Cardiac TBX20 mRNA levels were measured by real-time PCR in IDCM, controls, and in rats. The role of DNA promoter methylation and copy number variation (CNVs) in regulating TBX20 gene expression was also investigated. Cardiac TBX20 mRNA levels were significantly increased (8.9 fold, p < 0.001) in IDCM patients and in RAL rats as compared to the control group. Cardiac TBX20 expression showed a negative correlation with LVEF (r = -0.71, p < 0.001) and a positive correlation with left ventricular end-systolic volume (r = 0.39, p = 0.038). No significant difference in TBX20 CNVs and promoter methylation was observed between IDCM patients and control group. Our results suggest a potential role of TBX20 in pathophysiology of DCM.
authors.affiliation: Department of Cardiology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Anupam
authors.initials: A
authors.lastname: Mittal
authors.affiliation: Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Rajni
authors.initials: R
authors.lastname: Sharma
authors.affiliation: Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Rishikesh
authors.initials: R
authors.lastname: Prasad
authors.affiliation: Department of Cardiology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Bahl
authors.affiliation: Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. madhu.khullar@gmail.com.
authors.forename: Madhu
authors.initials: M
authors.lastname: Khullar
mesh_terms: D000328:Adult; D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000503:physiopathology*; D056915:DNA Copy Number Variations; D019175:DNA Methylation; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011401:Promoter Regions, Genetic; D051381:Rats; D020825:T-Box Domain Proteins / Q000235:genetics / Q000502:physiology*
chemical_list: D020825:T-Box Domain Proteins; C420984:TBX20 protein, human; C000612542:TBX20 protein, rat
keywords: Dilated cardiomyopathy; Heart failure; LVEF and gene expression; TBX20