一种针对先天性膈疝的组学方法：基因组、microRNA 和代谢组学分析的初步研究。
An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.
机构信息
Division of Perinatal Medicine, Yale Child Health Research Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Division of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Rome, Italy.
出版信息
J Perinatol. 2020 Jun;40(6):952-961. doi: 10.1038/s41372-020-0623-3. Epub 2020 Feb 20.
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.
简介
组学方法可以帮助确定可作为先天性膈疝 (CDH) 婴儿生物标志物的特征。
目的
寻找 CDH 患者气管抽吸物 (TA) 的特定 microRNA (miR) 和代谢特征。我们从血液样本中进行了基因分析。
方法
在 CDH 患者生命的前 48 小时内收集 TA 样本，并与年龄匹配的对照组进行比较。采用基于质谱的测定法进行代谢组学分析。使用染色体微阵列分析进行基因组学分析。
结果
共纳入 17 例 CDH 和 16 例对照新生儿。与年龄匹配的对照组相比，CDH 患者的 miR-16、miR-17、miR-18、miR-19b 和 miR-20a 的表达增加，而 miR-19a 的表达则降低了两倍。特定的代谢物将 CDH 新生儿与对照组区分开来。在一小部分患者中发现了一种基因突变。
结论
在 CDH 婴儿的 TA 样本中可以发现特定的代谢物和 miR 表达模式。
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