J Perinatol. 2020 Feb 20. doi: 10.1038/s41372-020-0623-3. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/32080334
An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.
Piersigilli F1,2, Syed M1,3, Lam TT4,5, Dotta A2, Massoud M2, Vernocchi P6, Quagliariello A6, Putignani L6,7, Auriti C2, Salvatori G2, Bagolan P2, Bhandari V8,9,10.
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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.PMID: 32080334 DOI: 10.1038/s41372-020-0623-3
