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Differentially expressed microRNAs in maternal plasma for the noninvasive prenatal diagnosis of down syndrome (trisomy 21)

2014Journal article Open access
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dc.contributor.authorKamhieh-Milz, Julian
dc.contributor.authorMoftah, Reham Fadl Hassan
dc.contributor.authorBal, Guerkan
dc.contributor.authorFutschik, Matthias
dc.contributor.authorSterzer, Viktor
dc.contributor.authorKhorramshahi, Omid
dc.contributor.authorBurow, Martin
dc.contributor.authorThiel, Gundula
dc.contributor.authorStuke-Sontheimer, Annegret
dc.contributor.authorChaoui, Rabih
dc.contributor.authorKamhieh-Milz, Sundrela
dc.contributor.authorSalama, Abdulgabar
dc.date.accessioned2018-12-07T14:58:27Z
dc.date.available2018-12-07T14:58:27Z
dc.date.issued2014
dc.description.abstractObjectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies. Methods. Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls. Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such asmucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS. Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.
dc.description.sponsorshipStiftung Charite
dc.identifier.doi10.1155/2014/402475
dc.identifier.issn2314-6133
dc.identifier.issn2314-6141
dc.identifier.urihttp://hdl.handle.net/10400.1/12032
dc.language.isoeng
dc.peerreviewedyes
dc.publisherHindawi Publishing Corporation
dc.subjectHuman chorionic-gonadotropin
dc.subjectAneuploid pregnancies
dc.subjectMessenger-rna
dc.subjectFetal dna
dc.subjectBiogenesis
dc.subjectDisorders
dc.subjectDisease
dc.subjectBrain
dc.subjectBlood
dc.titleDifferentially expressed microRNAs in maternal plasma for the noninvasive prenatal diagnosis of down syndrome (trisomy 21)
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage402475
oaire.citation.titleBioMed Research International
person.familyNameFutschik
person.givenNameMatthias
person.identifier.ciencia-idA71B-AD01-3501
person.identifier.orcid0000-0002-6245-8071
person.identifier.scopus-author-id14017989400
rcaap.rightsopenAccess
rcaap.typearticle
relation.isAuthorOfPublicationd58f3269-c7e1-4c22-b094-5cfe6750821b
relation.isAuthorOfPublication.latestForDiscoveryd58f3269-c7e1-4c22-b094-5cfe6750821b

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