An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.
(2020) Journal of Perinatology — Vol. 40, n° 6, p. 952-961 (2020)
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- Authors
Bhandari, Vineet 
- Abstract
- INTRODUCTION: The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH). OBJECTIVES: To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples. METHODS: TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis. RESULTS: CDH (n = 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients. CONCLUSIONS: Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.
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Citations
Piersigilli, F., Syed, M., Lam, T. T., Dotta, A., Massoud, M., Vernocchi, P., Quagliariello, A., Putignani, L., Auriti, C., Salvatori, G., Bagolan, P., & Bhandari, V. (2020). An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling. Journal of Perinatology, 40(6), 952-961. https://doi.org/10.1038/s41372-020-0623-3 (Original work published 2020)