Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

Abstract

Background:Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated.Aims:To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome.Study Design:Case-control study.Methods:We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction.Results:The expression levels of microRNA-125b-2, microRNA-155, and microRNA-3156 were significantly higher in the study group than in the control group.Conclusion:The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome

“…A large number of deregulated miRNAs are reported in various neurodevelopmental disorders like autism, Rett syndrome, Down syndrome, Fragile X-syndrome, etc. and many of those are essentially linked with synaptic maturation and plasticity (Li et al, 2008; Urdinguio et al, 2010; Mellios and Sur, 2012; Xu et al, 2013; Mellios et al, 2014; Hicks and Middleton, 2016; Karaca et al, 2017; Thomas et al, 2017). Although the miR-708 deregulation is commonly observed in various cancer tissues (Saini et al, 2012; Ryu et al, 2013), its altered expression so far not been reported in any other neurodevelopmental disorders.…”

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

“…An analysis of 14 miRNAs encoded by chromosome 21 showed that miR-125b-2, miR-155 and miR-3156 isolated from amniotic fluid are present in significantly higher levels in pregnant women with Down's syndrome foetuses [69]. Additionally, microarray-based genomewide expression profiling has revealed that miR-1973 and miR-3196 are expressed at higher levels in trisomy 21 placentas than in euploid placentas [70].…”

MicroRNA and Cardiovascular Diseases

“…Since miRNAs have very complex regulatory mechanisms based on complementary base pairing between miRNA and target mRNA, an individual miRNA can arrange the expression and functions of multiple genes; and conversely, single genes can be regulated by many miRNAs (13). A diverse role of dysregulated miRNAs in several diseases in the human body was reported in a previous study (1,13,14). This review will present detailed information about miRNAs regarding structure and biogenesis, stages of synthesis and functions, expression profiles in the serum/ plasma of living organisms, the diagnostic and prognostic potential as a novel biomarker, and therapeutic applications in various diseases.…”