Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

Xie, Wanqin; Zhou, Ling; Chen, Yong; Ni, Bin

doi:10.5847/wjem.j.1920-8642.2016.02.001

Cited by 23 publications

(17 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Further studies revealed that diabetic pregnant mice display significant changes in exosomal miRNA profiles compared to normal pregnant mice [73,74]. Additionally, significant differential expression of more than 100 circulating miRNAs, including miR-34a, miR-142-5p, miR-1275, miR-4666a-3p and miR-3664-3p, in the peripheral blood of pregnant women carrying a foetus with abnormal heart development compared to women with normal pregnancy has also been reported [57,75,76]. These differentially expressed miRNAs are functionally predicted to be involved in the regulation of foetal heart development by bioinformatics analysis [24,[75][76][77].…”

Section: Circulating and Exosomal-derived Mirnas In Pregnant Women Wimentioning

confidence: 82%

“…Additionally, significant differential expression of more than 100 circulating miRNAs, including miR-34a, miR-142-5p, miR-1275, miR-4666a-3p and miR-3664-3p, in the peripheral blood of pregnant women carrying a foetus with abnormal heart development compared to women with normal pregnancy has also been reported [57,75,76]. These differentially expressed miRNAs are functionally predicted to be involved in the regulation of foetal heart development by bioinformatics analysis [24,[75][76][77]. Therefore, these results confirm that circulatory exosomes or circulating miRNAs in pregnancy participate in the regulation of foetal heart development, providing new insight into CHD diagnosis, prevention and even treatment.…”

Section: Circulating and Exosomal-derived Mirnas In Pregnant Women Wimentioning

confidence: 91%

See 1 more Smart Citation

Clinical application of exosomes and circulating microRNAs in the diagnosis of pregnancy complications and foetal abnormalities

Yang

Wang

et al. 2020

J Transl Med

View full text Add to dashboard Cite

During pregnancy in humans, the physiology of the mother and foetus are finely regulated by many factors. Inappropriate regulation can result in pregnancy disorders, such as complications and foetal abnormalities. The early prediction or accurate diagnosis of related diseases is a concern of researchers. Liquid biopsy can be analysed for circulating cells, cell-free nucleic acids, and exosomes. Because exosomes can be detected in the peripheral blood of women in early pregnancy, these vesicles and their contents have become the focus of early prediction or diagnostic biomarker research on pregnancy complications and foetal developmental disorders. In this review, we focus on recent studies addressing the roles of peripheral blood exosomes and circulating miRNAs in pregnancy complications and in pregnancies with abnormal foetal developmental disorders, with particular attention paid to the potential application value of exosomes and circulating miRNAs as disease-specific biomarkers.

show abstract

Section: Circulating and Exosomal-derived Mirnas In Pregnant Women Wimentioning

confidence: 82%

Section: Circulating and Exosomal-derived Mirnas In Pregnant Women Wimentioning

confidence: 91%

Clinical application of exosomes and circulating microRNAs in the diagnosis of pregnancy complications and foetal abnormalities

Yang

Wang

et al. 2020

J Transl Med

View full text Add to dashboard Cite

show abstract

“…(1) The pathogenic variants might have been excluded by the filtering strategy. To focus on variants that are sufficiently interpretable to be clinically reported, we limited the analysis to variants predicted to impact a protein sequence, but noncoding or miRNA variants may be contributory (J. Li et al., ; Touma et al., ; Xie, Zhou, Chen, & Ni, ). We also required candidate variants to be of low frequency (<1%) in reference populations.…”

Section: Discussionmentioning

confidence: 99%

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

Hauser

Solomon²,

Vilboux³

et al. 2018

Molec Gen & Gen Med

View full text Add to dashboard Cite

BackgroundCongenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting.Methods and ResultsIn this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon‐based tests. Overall, we identified candidate variants in previously reported cardiac‐related genes in 35% (12/34) of the probands. These include clearly pathogenic variants in two of 34 patients (6%) and variants of uncertain significance in relevant genes in 10 patients (26%), of these latter 10, 2 segregated with clinically apparent findings in the family trios.ConclusionsThese findings suggest that with current knowledge of the proteins underlying CHD, genomic sequencing can identify the underlying genetic etiology in certain patients; however, this technology currently does not have a high enough yield to be of routine clinical use in the screening of pediatric congenital cardiac defects.

show abstract

“…Что касается аномалии формирования двустворчатого аортального клапана, то Yanagawa [26] продемонстрировал, что для этой категории пациентов характерно подавление экспрессии микроР-НК-141. Некоторые недавние исследования также показали, что повышение уровней микроРНК-22, микроРНК -375, микроРНК-19b и микроРНК-29c у матери связано с наличием ВПС у плода, что позволяет предположить, что концентрация микроРНК в материнской сыворотке может являться потенциальным клиническим биомаркером для раннего неинвазивного выявления ВПС плода [25][26][27][28].…”

Section: значение микрорнк в координации и дисрегуляции морфогенеза фunclassified

POSTTRANSCRIPTIONAL REGULATION IN CONGENITAL HEART DISEASE: THE ROLE OF miRNA

Понасенко

Цепокина

2019

Kompleks. probl. serdečno-sosud. zabol.

View full text Add to dashboard Cite

Congenital heart disease is the most common fetal abnormality resulting in high pediatric disability and mortality. Congenital heart disease is a heterogeneous group of cardiac abnormalities including atrial septal defect, valvular defects and cardiac outflow tract anomalies. Genetic, epigenetic and ecological factors leading to the development of congenital heart defects in each particular case remain poorly understood. Nevertheless, multifactorial and polygenic mechanisms underlying the disease may be suggested. Moreover, advanced genetic technologies including single nucleotide polymorphism testing, copy number variation and next-generation sequencing ensure early detection of genetic causes of heart abnormalities. Recent studies suggested the contributing role of small non-coding RNA (miRNA) in the pathogenesis of congenital heart defects. miRNA is known to coordinate the development of heart and stimulate such pathological processes like fibrosis, hypertrophy and impaired angiogenesis. Thus, the study of miRNA and its impact on the pathogenesis of various heart diseases has demonstrated its promising potential for therapeutic targets in regenerative medicine. The review presents recent genetic findings, miRNA functions, signaling pathways and evidences on its role in the development of certain congenital heart defects.

show abstract

Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

Cited by 23 publications

References 34 publications

Clinical application of exosomes and circulating microRNAs in the diagnosis of pregnancy complications and foetal abnormalities

Clinical application of exosomes and circulating microRNAs in the diagnosis of pregnancy complications and foetal abnormalities

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

POSTTRANSCRIPTIONAL REGULATION IN CONGENITAL HEART DISEASE: THE ROLE OF miRNA

Contact Info

Product

Resources

About