Differentially expressed miRNAs in trisomy 21 placentas

Svobodová, Iveta; Korabečná, Marie; Calda, Pavel; Bresták, M; Pazourkova, Eva; Pospı́šilová, Šárka; Krkavcová, M; Novotná, Michaela; Hořínek, Aleš

doi:10.1002/pd.4861

Cited by 18 publications

(17 citation statements)

References 53 publications

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“…This has been observed by others who quantitated expression of the same microRNAs in other tissue types and found reduced expression in T21 [11,20]. However, other studies have documented increased expression of these miRNAs in T21 as compared to euploid controls [10,21,27]. These apparent discrepancies could be attributed to differences in the tissue specimens investigated or differences in normalization techniques.…”

Section: Discussionmentioning

confidence: 61%

Expression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes

et al. 2017

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Trisomy 21 (T21) is the most common chromosome abnormality in humans and is associated with a spectrum of phenotypes, including cognitive impairment, congenital heart defects and immune system defects. In addition, T21 is also associated with abnormalities of fetal membranes including chorioamniotic separation, delayed fusion of the chorioamniotic membranes, defects in syncytiotrophoblast formation, as well as amniocyte senescence. There is evidence indicating miRNAs encoded by sequences on chromosome 21 (Chr-21) are involved in several of the cognitive and neurological phenotypes of T21, but the role of Chr- 21 derived miRNAs in fetal membrane abnormalities associated with T21 has not been investigated. In the current study, we determined the expression patterns of three miRNAs derived from a cluster on Chr-21 - hsa-miR-99a, hsa-miR-125b and hsa-let-7c in chorioamniotic membranes obtained from term pregnancies with spontaneous rupture (n = 20). Tissue and location specific expression patterns within the chorioamniotic membranes were identified. The rupture zone in the choriodecidua had distinct expression patterns compared to other fetal membrane locations. Despite the increased gene dosage associated with T21, the expression of all three miRNAs was reduced in cultured T21 amniocytes as compared to cultured euploid amniocytes. In silico analysis of experimentally validated targets of the three miRNAs suggest these Chr-21 derived miRNAs play a potential role in fetal membrane rupture and the fetal membrane defects associated with T21.1

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Section: Discussionmentioning

confidence: 61%

Expression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes

et al. 2017

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“…None of 12 selected miRNAs are on the chromosome 21. Seven miRNAs that were validated as significantly elevated in DS placentas in our previous study [27] were not among the differentially expressed miRNAs in the current pilot study with plasma samples.…”

Section: Pilot Studymentioning

confidence: 48%

“…In our previous research we performed miRNA expression profiling of CVS samples from euploid and trisomic pregnancies [27]. A total of 80 CVS samples (40 with normal karyotype, 40 with trisomy of chromosome 21) were included.…”

Section: Discussionmentioning

confidence: 99%

“…A total of 23 miRNAs were selected for the validation study (Table 1). The set of miRNAs consisted of three groups: 1) seven miRNAs verified as being overexpressed in DS placentas in our previous study [27] 2) 12 miRNAs with significantly different expression levels between euploid and DS plasma samples of pregnant women according to the results of the pilot study (p-value ≤ 0.05; fold change ≥ 1.5)…”

Section: Selection Of the Mirna Set For The Validation Studymentioning

confidence: 99%

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Genome-wide miRNA profiling in plasma of pregnant women with Down syndrome fetuses

Svobodová

Chylíková

Šeda

et al. 2019

Preprint

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Objective: Down syndrome (DS) belongs to the most common causes of mental retardation in men, therefore new approaches allowing its rapid and effective prenatal detection are being explored. In our study we focused on diagnostic potential of plasma microRNAs. We follow up on our previous study in DS placentas, where seven miRNAs were found as being significantly elevated.Methods: A total of 70 first-trimester plasma samples of pregnant women were included to the present study (35 samples with DS fetuses; 35 with euploid fetuses). The genome-wide miRNA profiling was performed in the preliminary study using Affymetrix GeneChip™ miRNA 4.1 Array Strips.Selected miRNAs were then included to the following validation study using qPCR. Results: Based on the current pilot study results (12 miRNAs), our previous research on CVS samples (7 miRNAs) and literature (4 miRNAs), the group of 23 miRNAs were selected for validation study. Although the results of the preliminary study were promising, the following validation step using more sensitive technology RT-PCR and larger group of samples revealed no significant differences in miRNA profiles between compared groups. Conclusion: Our results suggest that testing of the first trimester plasma miRNAs is not suitable for NIPT. Different results could be theoretically achieved at later gestational ages; however, such a result probably would have limited utilization in clinical practice.

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“…The present study follows on from our previous study comparing miRNA expression profiles in euploid and trisomic placentas. Seven miRNAs were found to be significantly up-regulated in DS placentas, three of which were located on chromosome 21 [29]. Because miRNAs are released via vesicles from the placenta to the maternal circulation, in the current study we focused on plasma samples of pregnant women bearing DS or euploid fetuses.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses

et al. 2020

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Down syndrome (DS) is one of the most common causes of intellectual disability and new approaches allowing its rapid and effective prenatal detection are being explored. In this study, we investigated the diagnostic potential of plasma microRNAs (miRNAs). This study builds upon our previous study in DS placentas, where seven miRNAs were found to be significantly up-regulated. A total of 70 first-trimester plasma samples from pregnant women were included in the present study (35 samples with DS fetuses; 35 with euploid fetuses). Genome-wide miRNA profiling was performed in the pilot study using Affymetrix GeneChip™ miRNA 4.1 Array Strips (18 samples). Selected miRNAs were then analysed in the validation study using quantitative reverse transcription PCR (RT-qPCR; 52 samples). Based on the current pilot study results (12 miRNAs), our previous research on chorionic villi samples (7 miRNAs) and the literature (4 miRNAs), a group of 23 miRNAs was selected for the validation study. Although the results of the pilot study were promising, the validation study using the more sensitive RT-qPCR technique and a larger group of samples revealed no significant differences in miRNA profiles between the compared groups. Our results suggest that testing of the first-trimester plasma miRNAs is probably not suitable for noninvasive prenatal testing (NIPT). Different results could be theoretically achieved at later gestational ages; however, such a result probably would have limited use in clinical practice.

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Differentially expressed miRNAs in trisomy 21 placentas

Abstract: These findings suggest the possible participation of miRNAs in Down syndrome impaired placentation and connected pregnancy pathologies. © 2016 John Wiley & Sons, Ltd.

Cited by 18 publications

References 53 publications

Expression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes

Expression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes

Genome-wide miRNA profiling in plasma of pregnant women with Down syndrome fetuses

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses

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