Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects

Sabina, Saverio; Pulignani, Silvia; Rizzo, Milena; Cresci, Monica; Vecoli, Cecilia; Foffa, Ilenia; Ait-Alì, Lamia; Pitto, Letizia; Andreassi, Maria Grazia

doi:10.1016/j.yjmcc.2013.04.002

Cited by 24 publications

(11 citation statements)

References 38 publications

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“…[26][27][28] Studies have shown that genetic variations within 3′UTR can affect the binding affinity of miRNAs, leading to heart malformations. 13,[29][30][31] Using the dual-luciferase reporter assays, our study found rs59382073 G to T variation decreased reporter gene expression in both HEK-293T and H9c2 cells. Furthermore, we found five additional miRNA binding sites created by G to T variation predicted by RegRNA.…”

Section: Discussionmentioning

confidence: 74%

Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3′ untranslated region in the Han Chinese population

et al. 2018

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Section: Discussionmentioning

confidence: 74%

Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3′ untranslated region in the Han Chinese population

et al. 2018

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“…miR-30 may also be associated with the immune response process, as it suppresses the polypeptide N-acetylgalactosaminyltransferase 7 gene, which leads to an increase of IL-10 (32). By contrast, two miRNAs (has-miR-604 and miR-423-3p) were described, but were not associated with infectious disease (33,34).…”

Section: Discussionmentioning

confidence: 99%

Preliminary evaluation of circulating microRNAs as potential biomarkers in paracoccidioidomycosis

et al. 2017

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MicroRNAs (miRNAs) are small RNAs (length, 19-24 nucleotides) that regulate gene expression by either mRNA degradation or translational inhibition of proteins. Circulating miRNAs, which are extremely stable and protected from RNAse-mediated degradation in body fluids, have appeared as candidate biomarkers for numerous diseases. However, little is known about circulating miRNAs in fungal infections. Paracoccidioidomycosis (PCM) is caused by the species, and is endemic in Central and South America, with predominance in adult male workers from rural areas. The current study aimed to identify a serum miRNA expression profile that could serve as a novel diagnostic biomarker for PCM. Total RNA was isolated and the levels of circulating miRNAs were compared between patients with PCM and healthy control subjects using reverse transcription-quantitative polymerase chain reaction. Bioinformatic analysis was used to evaluate the potential roles of these miRNAs in PCM. Eight miRNAs were differentially expressed in serum samples from patients with PCM. These miRNAs are associated with apoptosis and immune response. The identified miRNAs facilitate with understanding the regulatory mechanisms involved in the host-parasite interaction of PCM. Furthermore, considering that the diagnosis of PCM presents difficulties, these miRNAs may serve as novel biomarkers for this disease.

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“…Deletion of miR-1-2 results in heart defects that include ventricular septum defects leading to defects in conduction system and in increased cardiomyocyte proliferation [80]. Recently, by sequencing the GATA4 gene, we found several variants in its 3’UTR region [81]. The presence of genetic variants such as single nucleotide polymorphisms (SNPs) in 3’UTR may affect the bond strength of a specific miRNA, so that one allele may reduce or eliminate the binding [82-85], modulating gene expression.…”

Section: Micrornamentioning

confidence: 99%

“…The presence of genetic variants such as single nucleotide polymorphisms (SNPs) in 3’UTR may affect the bond strength of a specific miRNA, so that one allele may reduce or eliminate the binding [82-85], modulating gene expression. By using a computational approach followed by an in vitro functional analysis, we found that +1521C > G in the 3’UTR of GATA4 gene is a functional variant that can influence the susceptibility to CHD by affecting the post-transcriptional control by miRNAs [81]. …”

Section: Micrornamentioning

confidence: 99%

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Vecoli¹,

Pulignani²,

Foffa³

et al. 2014

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Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.

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Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects

Cited by 24 publications

References 38 publications

Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3′ untranslated region in the Han Chinese population

Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3′ untranslated region in the Han Chinese population

Preliminary evaluation of circulating microRNAs as potential biomarkers in paracoccidioidomycosis

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

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