scholarly journals FGD5-AS1 Is a Hub lncRNA ceRNA in Hearts With Tetralogy of Fallot Which Regulates Congenital Heart Disease Genes Transcriptionally and Epigenetically

2021 ◽  
Vol 9 ◽  
Author(s):  
Xingyu Zhang ◽  
Yunqian Gao ◽  
Xiaoping Zhang ◽  
Xiaoqing Zhang ◽  
Ying Xiang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Heart Development ◽  
Congenital Heart ◽  
Expression Profiles ◽  
Regulation Of Gene Expression ◽  
Luciferase Reporter ◽  
Heart Cell ◽  
Cerna Network

Heart development requires robust gene regulation, and the related disruption could lead to congenital heart disease (CHD). To gain insights into the regulation of gene expression in CHD, we obtained the expression profiles of long non-coding RNAs (lncRNAs) and messenger RNAs (mRNAs) in 22 heart tissue samples with tetralogy of Fallot (TOF) through strand-specific transcriptomic analysis. Using a causal inference framework based on the expression correlations and validated microRNA (miRNA)–lncRNA–mRNA evidences, we constructed the competing endogenous RNA (ceRNA)-mediated network driven by lncRNAs. Four lncRNAs (FGD5-AS1, lnc-GNB4-1, lnc-PDK3-1, and lnc-SAMD5-1) were identified as hub lncRNAs in the network. FGD5-AS1 was selected for further study since all its targets were CHD-related genes (NRAS, PTEN, and SMAD4). Both FGD5-AS1 and SMAD4 could bind with hsa-miR-421, which has been validated using dual-luciferase reporter assays. Knockdown of FGD5-AS1 not only significantly reduced PTEN and SMAD4 expression in HEK 293 and the fetal heart cell line (CCC-HEH-2) but also increased the transcription of its interacted miRNAs in a cell-specific way. Besides ceRNA mechanism, RNAseq and ATACseq results showed that FGD5-AS1 might play repression roles in heart development by transcriptionally regulating CHD-related genes. In conclusion, we identified a ceRNA network driven by lncRNAs in heart tissues of TOF patients. Furthermore, we proved that FGD5-AS1, one hub lncRNA in the TOF heart ceRNA network, regulates multiple genes transcriptionally and epigenetically.

Endothelial function state following repair of cyanotic congenital heart diseases

2013 ◽  
Vol 25 (2) ◽  
pp. 222-227 ◽  
Author(s):  
Mohammad Reza Sabri ◽  
Hooman Daryoushi ◽  
Mojgan Gharipour
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Endothelial Function ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Cyanotic Congenital Heart Disease ◽  
Vascular Endothelial ◽  
Vascular Endothelial Function ◽  
Flow Mediated Dilatation ◽  
The Mean

AbstractBackgroundRepairing cyanotic congenital heart disease may be associated with preserving endothelial function. The present study aimed to evaluate vascular endothelial function in patients with repaired cyanotic congenital heart disease.MethodsIn a case–control study conducted in 2012 in Isfahan, Iran, 42 consecutive patients aged <35 years who had suffered from different types of cyanotic congenital heart disease and had undergone complete repair of their congenital heart defect were assessed in regard to their endothelial function state by measuring flow-mediated dilatation and other cardiac function indices. They were paired with 42 sex- and age-matched healthy controls.ResultsThe mean flow-mediated dilatation was lower in patients with repaired cyanotic congenital heart disease than in the controls [6.14±2.78 versus 8.16±1.49 respectively (p<0.001)]. Significant adverse correlations were found between flow-mediated dilatation, age, and body mass indexes, in those who underwent repair surgery. In addition, flow-mediated dilatation had a positive association with the shortening fraction, ejection fraction, and tricuspid annular plane systolic excursion value, and it was also inversely associated with carotid intima-media thickness and the myocardial performance index. The mean of the flow-mediated dilatation was significantly higher in the group with tetralogy of Fallot along with complete repair before the age of 2.5 years and also in those patients with total anomalous pulmonary venous connection or transposition of the great arteries repaired with an arterial switch operation before 6 months of age, compared with the other two subgroups. This includes patients with a tetralogy of Fallot defect repaired after 4 years of age and those with complex cyanotic congenital heart disease that was repaired after 2.5 years of age (mean age at repair 9±6.1 years).ConclusionEarly repair of a cyanotic defect can result in the protection of vascular endothelial function and prevent the occurrence of vascular accidents at an older age.

Association study of a functional variant of TNF-α gene and serum TNF-α level with the susceptibility of congenital heart disease in a Chinese population

2019 ◽  
Vol 95 (1128) ◽  
pp. 547-551
Author(s):  
Jun Pan ◽  
Jiang Hu ◽  
Xusheng Qi ◽  
Liqin Xu
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Luciferase Reporter Assay ◽  
Luciferase Reporter ◽  
Control Group ◽  
Reporter Assay ◽  
Tnf Α ◽  
Α Level ◽  
Dual Luciferase Reporter Assay

BackgroundCongenital heart disease (CHD) is among the leading causes of infant death worldwide. Although shortage of folate has been found potentially to contribute to CHD in the embryo, the aetiology of CHD was not completely understood. Inflammation and altered immune processes are involved in all forms of cardiac malformation, including CHD. Tumour necrosis factor-α (TNF-α), was involved in the pathogenesis of multiple kinds of heart diseases. However, no studies have systematically evaluated the associations of genetic variants of TNF-α with susceptibility of CHD.MethodsA case-control study was conducted to evaluate the associations between tagSNPs of TNF-α and CHD susceptibility. Serum level of TNF-α was assessed using ELISA. The dual luciferase reporter assay was used to evaluate the functional significance of variant rs1800629 on TNF-α transcriptional activity.ResultsWe found rs1800629 was significantly correlated with increased CHD susceptibility (OR: 1.72, 95% CI 1.26 to 2.36, p=0.001). Serum levels of TNF-α were significantly higher in CHD group (9.09±1.90 pg/mL) than that in control group (6.12±1.56 pg/mL, p<0.001). The AA genotype and AG genotype of rs1800629 was associated with higher serum TNF-α level, compared with GG genotype. The dual luciferase reporter assay showed that promoter activity was significantly increased by 57% and 76% for plasmids containing the minor A allele compared with the major G allele in H9c2 and HEK 293T, respectively.ConclusionThese results indicate that higher level of serum TNF-α increases risk of CHD, while TNF-α rs1800629 A allele might contribute to higher risk for CHD due to the increase in TNF-α expression.

scholarly journals Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review

2020 ◽  
Vol 20 (2) ◽  
pp. 745-752 ◽  
Author(s):  
Judith Namuyonga ◽  
Sulaiman Lubega ◽  
Twalib Aliku ◽  
John Omagino ◽  
Craig Sable ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Heart Defects ◽  
Truncus Arteriosus ◽  
Deletion Syndrome ◽  
Mulago Hospital ◽  
22Q11.2 Deletion ◽  
Heart Institute

Background: Congenital heart disease (CHD) is the most common congenital anomaly in children. Over half of the deaths due to CHD occur in the neonatal period. Most children with unrepaired complex heart lesions do not live to celebrate their first birthday. We describe the spectrum of congenital heart disease in Uganda. Methods: We retrospectively reviewed the data of children with CHD who presented to the Uganda Heart Institute (UHI), Mulago Hospital Complex from 2007 to 2014. Results: A total of 4621 children were seen at the UHI during the study period. Of these, 3526 (76.3%) had CHD; 1941(55%) were females. Isolated ventricular septal defect (VSD) was the most common CHD seen in 923 (27.2%) children followed by Patent ductus arteriosus (PDA) 760 (22%) and atrial septal defects (ASD) 332 (9.4%). Tetralogy of Fallot (TOF) and Truncus arteriosus were the most common cyanotic heart defects (7% and 5% respectively). Dysmorphic features were diagnosed in 185 children, of which 61 underwent genetic testing (Down syndrome=24, 22q11.2 deletion syndrome n=10). Children with confirmed 22q11.2 deletion had conotruncal abnormalities. Conclusion: Isolated VSD and Tetralogy of Fallot are the most common acyanotic and cyanotic congenital heart defects. We report an unusually high occurrence of Truncus arteriosus. Keywords: Congenital heart disease; children; Uganda.

scholarly journals Navigating the non-coding genome in heart development and Congenital Heart Disease

2019 ◽  
Vol 107 ◽  
pp. 11-23 ◽  
Author(s):  
Gulrez Chahal ◽  
Sonika Tyagi ◽  
Mirana Ramialison
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Heart Development ◽  
Congenital Heart

scholarly journals Pattern and frequency of pediatric congenital heart disease at the Cardiac Research Institute of Kabul Medical University, Afghanistan

2018 ◽  
Vol 58 (3) ◽  
pp. 106-9
Author(s):  
Abdul Muhib Sharifi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cardiac Lesions ◽  
Medical University ◽  
Research Institute

Background Congenital heart disease (CHD) is the most common birth defect, with incidence of 0.7-0.9 live birth; it increases to 2-6% if first degree relative is affected. In Afghanistan majority of births take place at home and routine screening of neonates is not common, so true birth prevalence of CHD cannot be possibly calculated. Therefore, true prevalence of CHD in our population is unknown. Objective To verify the current pattern and frequency distribution of congenital heart disease (CHD) at the Cardiac Research Institute of Kabul Medical University. Methods  This retrospective study was conducted in children aged 0-14 years, who underwent echocardiography for possible congenital heart disease from January 2015 to December 2016. Results  Of 560 patients who underwent echocardiography, 392(70%) had cardiac lesions. Congenital cardiac lesions were found in 235 (60% of those with lesions) patients, while 157 (40%) patients had rheumatic heart disease. Patients with CHD were further subdivided into acyanotic and cyanotic groups. The majority of acyanotic group had isolated atrial septal defect (55%) while the most common lesion in the cyanotic group was Tetralogy of Fallot (42%). Conclusion Congenital heart defects are the most common heart disease in the pediatric population presenting at the Cardiac Research Institute of Kabul Medical University. Atrial septal defect (ASD) was the most common acyanotic defect, while Tetralogy of Fallot (ToF) is the most common cyanotic defect.

Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation

2015 ◽  
Vol 26 (1) ◽  
pp. 164-167 ◽  
Author(s):  
Victoria C. Ziesenitz ◽  
Tsvetomir Loukanov ◽  
Christiane Gläser ◽  
Matthias Gorenflo
Keyword(s):  
Liver Transplantation ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Alagille Syndrome ◽  
Cardiac Repair ◽  
Absent Pulmonary Valve ◽  
Variable Expression

AbstractWe report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient’s sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.

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