| Autor: |
Salvi A; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Vezzoli M; Unit of Biostatistics, Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Busatto S; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Paolini L; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Faranda T; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Abeni E; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Caracausi M; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40138 Bologna, Italy., Antonaros F; CSGI, Research Center for Colloids and Nanoscience, Sesto Fiorentino, I‑50019 Florence, Italy., Piovesan A; CSGI, Research Center for Colloids and Nanoscience, Sesto Fiorentino, I‑50019 Florence, Italy., Locatelli C; Neonatology Unit, St. Orsola‑Malpighi Polyclinic, I‑40138 Bologna, Italy., Cocchi G; Neonatology Unit, St. Orsola‑Malpighi Polyclinic, I‑40138 Bologna, Italy., Alvisi G; Department of Molecular Medicine, University of Padua, I‑35121 Padua, Italy., De Petro G; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Ricotta D; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Bergese P; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy., Radeghieri A; Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy. |
| Abstrakt: |
Down syndrome (DS) is caused by the presence of part or all of a third copy of chromosome 21. DS is associated with several phenotypes, including intellectual disability, congenital heart disease, childhood leukemia and immune defects. Specific microRNAs (miRNAs/miR) have been described to be associated with DS, although none of them so far have been unequivocally linked to the pathology. The present study focuses to the best of our knowledge for the first time on the miRNAs contained in nanosized RNA carriers circulating in the blood. Fractions enriched in nanosized RNA‑carriers were separated from the plasma of young participants with DS and their non‑trisomic siblings and miRNAs were extracted. A microarray‑based analysis on a small cohort of samples led to the identification of the three most abundant miRNAs, namely miR‑16‑5p, miR‑99b‑5p and miR‑144‑3p. These miRNAs were then profiled for 15 pairs of DS and non‑trisomic sibling couples by reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR). Results identified a clear differential expression trend of these miRNAs in DS with respect to their non‑trisomic siblings and gene ontology analysis pointed to their potential role in a number of typical DS features, including 'nervous system development', 'neuronal cell body' and certain forms of 'leukemia'. Finally, these expression levels were associated with certain typical quantitative and qualitative clinical features of DS. These results contribute to the efforts in defining the DS‑associated pathogenic mechanisms and emphasize the importance of properly stratifying the miRNA fluid vehicles in order to probe biomolecules that are otherwise hidden and/or not accessible to (standard) analysis. |
