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Open AccessArticle

Mature miR-99a Upregulation in the Amniotic Fluid Samples from Female Fetus Down Syndrome Pregnancies: A Pilot Study

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Doctoral School, Victor Babes University of Medicine and Pharmacy Timisoara, Eftimie Murgu Nr. 2, Timisoara 300041, Romania
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CytoGenomic Medical Laboratory, Calea Floreasca Nr. 35, Sector 1, Bucharest 014451, Romania
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Obstetrics and Gynecology Department, Victor Babes University of Medicine and Pharmacy, Eftimie Murgu Nr. 2, Timisoara 300041, Romania
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Biochemistry Department, Victor Babes University of Medicine and Pharmacy, Eftimie Murgu Nr. 2, Timisoara 300041, Romania
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Surgical Semiology Department, Victor Babes University of Medicine and Pharmacy, Eftimie Murgu Nr. 2, Timisoara 300041, Romania
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Author to whom correspondence should be addressed.
Medicina 2019, 55(11), 728; https://doi.org/10.3390/medicina55110728
Received: 17 September 2019 / Revised: 25 October 2019 / Accepted: 5 November 2019 / Published: 7 November 2019
(This article belongs to the Special Issue Clinical Embryology and Reproductive Medicine)
Background and Objective: Although Down syndrome is the most frequent aneuploidy, its pathogenic molecular mechanisms are not yet fully understood. The aim of our study is to quantify—by qRT-PCR—the expression levels of both the mature forms and the pri-miRNAs of the microRNAs resident on chromosome 21 (miR(21)) in the amniotic fluid samples from Down syndrome singleton pregnancies and to estimate the impact of the differentially expressed microRNAs on Down syndrome fetal heart and amniocytes transcriptomes. Materials and methods: We collected amniotic fluid samples harvested by trained obstetricians as part of the second trimester screening/diagnostic procedure for aneuploidies to assess the trisomy 21 status by QF-PCR and karyotyping. Next, we evaluated—by Taqman qRT-PCR—the expression levels of both the mature forms and the pri-miRNA precursors of the microRNAs resident on chromosome 21 in amniotic fluid samples from singleton Down syndrome and euploid pregnancies. Further, we combined miRWalk 3.0 microRNA target prediction with GEO DataSets analysis to estimate the impact of hsa-miR-99a abnormal expression on Down syndrome heart and amniocytes transcriptome. Results: We found a statistically significant up-regulation of the mature form of miR-99a, but not pri-miR-99a, in the amniotic fluid samples from Down syndrome pregnancies with female fetuses. GATHER functional enrichment analysis of miRWalk3.0-predicted targets from Down syndrome amniocytes and fetal hearts transcriptome GEODataSets outlined both focal adhesion and cytokine–cytokine receptor interaction signaling as novel signaling pathways impacted by miR-99a and associated with cardiac defects in female Down syndrome patients. Conclusions: The significant overexpression of miR-99a, but not pri-miR-99a, points towards an alteration of the post-transcriptional mechanisms of hsa-miR-99a maturation and/or stability in the female trisomic milieu, with a potential impact on signaling pathways important for proper development of the heart. View Full-Text
Keywords: Down syndrome; amniotic fluid; pregnancy; microRNA; cardiac defects Down syndrome; amniotic fluid; pregnancy; microRNA; cardiac defects
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Vizitiu, A.-C.; Stambouli, D.; Pavel, A.-G.; Muresan, M.-C.; Anastasiu, D.M.; Bejinar, C.; Alexa, A.; Marian, C.; Sirbu, I.O.; Sima, L. Mature miR-99a Upregulation in the Amniotic Fluid Samples from Female Fetus Down Syndrome Pregnancies: A Pilot Study. Medicina 2019, 55, 728.

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