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Updated: Dec 8, 2025
Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform
Published on: November 30, 2016
Assessment of plasma microRNAs in congenital intestinal malrotation
Xiurui Lv1, Huan Chen1, Xinhe Sun1
1Department of Pediatric Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, P.R. China.
Abstract:
Intestinal malrotation in newborns often requires urgent surgical treatment, especially in the presence of volvulus. Therefore, early‑stage diagnosis is critical. In the present study, differentially expressed plasma microRNAs (miRNAs) were screened for in patients with intestinal malrotation using high‑throughput Illumina sequencing, and validated using reverse transcription‑quantitative PCR. Receiver operating characteristic curve (ROC) analysis was conducted to evaluate their specificity, sensitivity and assess their diagnostic value for intestinal malrotation. Bioinformatics analysis was performed to investigate the functions associated with the dysregulated miRNAs. A profile consisting of 28 differentially expressed plasma miRNAs was obtained, of which nine were verified to exhibit significantly altered expression. According to a ROC analysis, four of these could represent novel early‑stage, non‑invasive biomarkers for intestinal malrotation. Bioinformatics analysis demonstrated that the differentially expressed miRNAs were predominantly involved in 'metal ion transmembrane transporter activity' and 'calcium‑dependent protein binding', which may be related to the 'endocytosis' pathway. In conclusion, significantly differentially expressed plasma miRNAs were identified in congenital intestinal malrotation and their potential roles were described. These differentially expressed miRNAs may serve as biomarkers of intestinal malrotation and improve early diagnosis for this condition.
Insights
Early diagnosis of intestinal malrotation in newborns is crucial. Researchers identified specific microRNAs (miRNAs) in plasma that show potential as non-invasive biomarkers for early detection of this condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Surgery
Background:
- Intestinal malrotation in newborns presents a significant surgical challenge, particularly when complicated by volvulus.
- Timely and accurate diagnosis is paramount for effective intervention and improved patient outcomes.
Purpose of the Study:
- To identify novel, non-invasive plasma biomarkers for the early diagnosis of intestinal malrotation in newborns.
- To investigate the functional roles of differentially expressed microRNAs (miRNAs) in the pathogenesis of intestinal malrotation.
Main Methods:
- High-throughput Illumina sequencing was employed to screen for differentially expressed plasma miRNAs in patients with intestinal malrotation.
- Reverse transcription-quantitative PCR (RT-qPCR) was used for validation of candidate miRNAs.
- Receiver operating characteristic (ROC) curve analysis was performed to assess diagnostic accuracy.
- Bioinformatics analysis was utilized to explore the functions of dysregulated miRNAs.
Main Results:
- A distinct profile of 28 differentially expressed plasma miRNAs was identified.
- Nine miRNAs were validated to show significantly altered expression levels.
- Four specific miRNAs demonstrated high sensitivity and specificity, indicating their potential as early-stage diagnostic biomarkers.
- Bioinformatics analysis linked these miRNAs to metal ion transmembrane transporter activity, calcium-dependent protein binding, and the endocytosis pathway.
Conclusions:
- Significantly differentially expressed plasma miRNAs have been identified in congenital intestinal malrotation.
- These miRNAs hold promise as novel, non-invasive biomarkers for improving the early diagnosis of intestinal malrotation in neonates.
- Understanding the functional pathways associated with these miRNAs may offer insights into the condition's underlying mechanisms.
