Department of Pediatric Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, P.R. China.
Mol Med Rep. 2020 Oct;22(4):3289-3298. doi: 10.3892/mmr.2020.11395. Epub 2020 Jul 31.
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.
新生儿肠旋转不良常需紧急手术治疗,尤其在发生肠扭转时。因此,早期诊断至关重要。本研究采用高通量 Illumina 测序筛选肠旋转不良患者的差异表达血浆 microRNAs(miRNAs),并采用逆转录定量 PCR 进行验证。通过接收者操作特征曲线(ROC)分析评估其对肠旋转不良的特异性、敏感性和诊断价值。通过生物信息学分析探讨与失调 miRNA 相关的功能。获得了一个由 28 个差异表达血浆 miRNA 组成的特征,其中 9 个被验证显示表达明显改变。根据 ROC 分析,其中 4 个可作为肠旋转不良的新型早期非侵入性生物标志物。生物信息学分析表明,差异表达的 miRNA 主要参与“金属离子跨膜转运活性”和“钙依赖性蛋白结合”,可能与“内吞作用”途径有关。总之,本研究在先天性肠旋转不良患者的血浆中鉴定到明显差异表达的 miRNA,并描述了它们的潜在作用。这些差异表达的 miRNA 可能作为肠旋转不良的生物标志物,改善该病的早期诊断。