Abstract
The altered expression pattern of miRNAs might potentially reflect anomalies related to foetal chromosomal aberrations. The aim of the study was to determine the expression level of miRNAs in plasma of pregnant women with foetal Down syndrome (DS). Out of 198 amniocentesis performed at 15–18 weeks of gestation, within a group of 12 patients with foetal DS and 12 patients with uncomplicated pregnancies, who delivered healthy newborns at term, we examined the expression level of 800 miRNAs using the NanoString technology. Our study revealed that there are 6 miRNAs were upregulated (hsa-miR-15a, hsa-let-7d, hsa-miR-142, hsa-miR-23a, hsa-miR-199, hsa-miR-191) and 7 were downregulated (hsa-miR-1290, hsa-miR-1915, hsa-miR30e, hsa-miR-1260, hsa-miR-483, hsa-miR-548, hsa-miR-590) in plasma samples of women with foetal DS syndrome. The genes regulated by identified miRNAs are involved in central nervous system development, congenital abnormalities and heart defects. The results of the present study yielded information on DS-specific miRNA expression signature, which can further help to design a panel of miRNAs as a non-invasive test for DS diagnosis. We believe that identified miRNAs may attend in the pathogenesis of DS and would potentially make a significant role for the future preventive therapies.
Highlights
Down syndrome (DS), known as the most frequent chromosomal abnormality, is caused by an extra chromosome 21 or a fragment thereof[1]
Since miRNA plays a pivotal role in the epigenetic regulation of mRNA expression, it has become a target of research directed towards the development of a new non-invasive method for foetal DS screening
The growing number of studies examining the global changes in miRNA expression suggest that these molecules are associated with a variety of human diseases, such as neuropsychiatric disorders[17], diabetes[18] and cancer[19]
Summary
Down syndrome (DS), known as the most frequent chromosomal abnormality, is caused by an extra chromosome 21 or a fragment thereof[1]. According to the National Institute of Child Health & Human Development (http:// www.ncbi.nlm.nih.gov/pubmed/) the incidence of DS in the United States is estimated to be 1:800-1:1.000 live births. This trisomy concerns congenital anomalies, including heart defects, gastrointestinal anomalies, immune system defects, thyroid disease, bone defects, genitourinary system defects, intellectual disability and many other diseases[2]. MicroRNAs (miRNAs) form a large group of small non-protein coding RNAs, which are considered important regulators of gene expression[9]. Since miRNA plays a pivotal role in the epigenetic regulation of mRNA expression, it has become a target of research directed towards the development of a new non-invasive method for foetal DS screening. Our study might identify molecules potentially involved in disorder pathogenesis, but most importantly help to design a panel for non-invasive DS screening
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