Calcific aortic valve disease is characterized by an abnormal mineralization of the valve. Osteogenic activity in under control NOTCH1, which regulates expression key pro-osteogenic genes such as RUNX2 and BMP2. Long noncoding RNAs (lncRNAs) may reprogram cells altering gene pattern.Multidimensional genomic profiling was performed human valves to document lncRNAs DNA methylation pattern calcific disease. In-depth functional assays were carried out impact lncRNA on valve.We documented that...

OBJECTIVE To verify whether the leptin gene epigenetic (DNA methylation) profile is altered in offspring of mothers with gestational impaired glucose tolerance (IGT). RESEARCH DESIGN AND METHODS Placental tissues and maternal cord blood samples were obtained from 48 women at term including 23 subjects IGT. Leptin DNA methylation, expression levels, circulating concentration measured using Sequenom EpiTYPER system, quantitative real-time RT-PCR, enzyme-linked immunosorbent assay,...

Growing evidence suggests that epigenetic profile changes occurring during fetal development in response to utero environment variations could be one of the mechanisms involved early determinants adult chronic diseases. In this study, we tested whether maternal glycemic status is associated with adiponectin gene (ADIPOQ) DNA methylation placenta tissue, circulating blood cells, and cord cells. We found lower levels promoter ADIPOQ on side were correlated higher glucose second trimester...

The insulin-like growth factor 2 (IGF2) gene, located within a cluster of imprinted genes on chromosome 11p15, encodes fetal and placental affecting birth weight. DNA methylation variability at the IGF2 gene locus has been previously reported but its consequences development are still mostly unknown in normal pediatric population. We collected one hundred placenta biopsies from 50 women with corresponding maternal cord blood samples measured anthropometric indices, pressure metabolic...

High-density lipoproteins cholesterol (HDL-C) level, a strong coronary artery disease (CAD) clinical biomarker, shows significant interindividual variability. However, the molecular mechanisms involved remain mostly unknown. ATP-binding cassette A1 (ABCA1) catalyzes transfer from peripheral cells to nascent HDL particles. Recently, differentially methylation region was identified in ABCA1 gene promoter locus, near first exon. Therefore, we hypothesized that DNA changes at locus is one of...

In utero environmental perturbations have been associated with epigenetic changes in the offspring and a lifelong susceptibility to cardiovascular diseases (CVD). DNA methylation at ATP-binding cassette transporter A1 (ABCA1) gene was previously CVD, but whether these marks respond maternal environment is unknown. This study undertaken assess associations between metabolic profile ABCA1 levels placenta cord blood. Placenta blood samples were obtained delivery from 100 women including 26...

Previous studies have suggested that DNA methylation contributes to coronary artery disease (CAD) risk variability. hypermethylation at the ATP-binding cassette transporter A1 (ABCA1) gene, an important modulator of high-density lipoprotein cholesterol and reverse transport, has been previously associated with plasma lipid levels, aging CAD, but association CAD yet be replicated. ABCA1 levels were measured in leucocytes 88 men using bis-pyrosequencing. We first showed gene promoter locus is...

Children exposed to gestational diabetes mellitus (GDM) are at a higher risk of developing obesity and type 2 diabetes. This susceptibility might involve brown adipose tissue (BAT), which is suspected protect against obesity. The objective this study assess whether fetal exposure maternal hyperglycemia associated with DNA methylation variations in genes involved BAT genesis activation.DNA levels the PRDM16, BMP7, CTBP2, PPARGC1α gene loci were measured placenta samples using bisulfite...

Gene polymorphisms associated so far with plasma lipid concentrations explain only a fraction of their heritability, which can reach up to 60%. Recent studies suggest that epigenetic modifications (DNA methylation) could contribute part this missing heritability. We therefore assessed whether the DNA methylation key lipoprotein metabolism genes is high-density cholesterol (HDL-C), low-density (LDL-C) and triglyceride levels in patients familial hypercholesterolemia (FH). Untreated FH (61 men...

During pregnancy, maternal metabolism undergoes substantial changes to support the developing fetus. Such are finely regulated by different mechanisms carried out effectors such as microRNAs (miRNAs). These small non-coding RNAs regulate numerous biological functions, mostly through post-transcriptional repression of gene expression. miRNAs also secreted in circulation organs, placenta. However, complete plasmatic microtranscriptome pregnant women has still not been fully described, although...

Abstract Context Dysbetalipoproteinemia (DBL) is a multifactorial disorder that disrupts the normal metabolism of remnant lipoproteins, causing increased risk cardiovascular disease. However, establishing proper diagnosis difficult, and true prevalence disease in general population remains unknown. Objective The objectives were to study validate performance different clinical diagnostic criteria large population-based cohort. Methods This included 453 437 participants from UK Biobank. DBL...

Gestational diabetes mellitus (GDM) is associated with obesity in childhood. This suggests that consequences of utero exposure to maternal hyperglycemia extend beyond the fetal development, possibly through epigenetic programming. The aims this study were assess whether placental DNA methylation (DNAm) marks GDM status and offspring body composition at 5 years old a prospective birth cohort. DNAm levels measured side placenta 66 samples (24 from mothers) using bisDNA-pyrosequencing....

Aim:ADRB3 DNA hypermethylation was recently associated with dyslipidemia in familial hypercholesterolemia (FH). In this study, we verified whether ADRB3 methylation blood and visceral adipose tissue (VAT) obesity its related complications. Methods: levels were measured the of 61 FH men, VAT 30 severely obese men. Common polymorphisms genotyped all subjects. Results: Higher significantly lower low-density lipoprotein cholesterol (r = -0.40; p 0.01) FH, a waist-to-hip ratio -0.55; higher...

This study aims to assess whether epigenetic changes may account for high-density lipoprotein cholesterol (HDL-C) level variability in familial hypercholesterolemia (FH), a recognized human model cardiovascular disease risk modulators.A genome-wide DNA methylation analysis (Infinium HumanMethylation27 BeadChip, Illumina) was performed on peripheral blood samples obtained from men with FH low (n = 10) or high 11) HDL-C concentrations. The initial association one of the top differentially...

Abstract Inhibition of PACE4, a proprotein convertase that is overexpressed in prostate cancer, has been shown to block cancer progression an androgen-independent manner. However, the basis for its overexpression and growth-inhibitory effects are mitigated uncertain. Here, we report PACE4 pre-mRNA undergoes DNA methylation–sensitive alternative splicing terminal exon 3′ untranslated region, generating oncogenic, C-terminally modified isoform (PACE4-altCT). We found this be strongly expressed...

Aims: To determine whether placental IGF1R, IGFBP3, INSR and IGF1 DNA methylation mRNA levels were dysregulated when exposed to maternal impaired glucose tolerance (IGT) investigate the epigenetic profile is associated with feto-placental developmental markers. Patients & methods: The IGT diagnosis was made according WHO criteria (IGT: n = 34; normal [NGT]: 106). quantified using bisulfite pyrosequencing qRT-PCR, respectively. Results: IGF1R IGFBP3 lower in placentas compared NGT (-4.3%; p...

A high consumption of trans fatty acids (TFAs) is associated with an increased risk cardiovascular diseases (CVDs). High-density lipoproteins (HDLs) have many cardioprotective properties and transport functional microRNAs (miRNAs) to recipient cells. We hypothesized that dietary TFAs modify the HDL-carried miRNA profile, therefore modulating its properties. assessed whether modifies miR-223-3p miR-135a-3p concentration inter-relationship between diet-induced changes in CVD markers. In a...

<b>Background:</b> Abdominal visceral adiposity in early pregnancy has been associated with impaired glucose tolerance later pregnancy. The “hypertriglyceridemic waist” phenotype (i.e., abdominal obesity combination hyper-triglyceridemia) is a clinical marker of obesity. Our study aimed to assess the association between hyper-triglyceridemic-waist and intolerance <b>Methods:</b> Plasma triglycerides waist girth were measured at 11–14 weeks gestation among 144 white pregnant women. Glycemia...

Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence ZS has been suspected French-Canadians the Saguenay-Lac-St-Jean region (SLSJ) Quebec, but this remains unsolved. We identified 5 patients from SLSJ diagnosed by dysfunction between 1990–2010 and sequenced all coding exons known genes patient using Next Generation Sequencing (NGS) for diagnostic confirmation. A homozygous mutation (c.802_815del, p.[Val207_Gln294del,...