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Research: An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.

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Research: An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.

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 F1,2Syed M1,3Lam TT4,5Dotta A2Massoud M2Vernocchi P6Quagliariello A6Putignani L6,7Auriti C2Salvatori G2Bagolan P2Bhandari V8,9,10.

Author information

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

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