Combined analysis of differential miRNAs between amniotic fluid exosomes and placenta in Down syndrome fetuses
10.19405/j.cnki.issn1000-1492.2025.06.024
- Author:
Yaqin Zhang
1
;
Zhongrui Ma
2
;
Yuan Qian
3
;
Junjun Li
4
;
Xingli Deng
4
Author Information
1. Reproductive Genetics Center of Puer People ′s Hospital , Puer 665000
2. Dept of Obstetrics , The First Afiliated Hospital of Kunming Medical University , Kunming 650032
3. Precision Diagnosis and Treatment Center , Afiliated Hospital of Yunnan University , Kunming 650021
4. Dept of Neurosurgery , The First Afiliated Hospital of Kunming Medical University , Kunming 650032
- Publication Type:Journal Article
- Keywords:
Down syndrome;
miRNA;
sequencing;
amniotic fluid;
placenta
- From:
Acta Universitatis Medicinalis Anhui
2025;60(6):1140-1148
- CountryChina
- Language:Chinese
-
Abstract:
Objective : To analyze the differential expression profile of miRNAs in amniotic fluid exosomes of fetu- ses with Down syndrome (DS) and provide insights for identifying novel biomarkers for the prenatal diagnosis of DS .
Methods :Amniotic fluid samples were collected from fetuses with DS and chromosomally normal fetuses . Exo- somes were isolated from the amniotic fluid and subjected to high-throughput sequencing. Differentially expressed miRNAs were identified , and target genes were predicted using TargetScan and miRanda. Target genes located on chromosome 21 were selected , and their biological functions and associated diseases were analyzed using Gene- Cards , HGNC , NCBI Gene , UniProtKB/Swiss-Prot , Ensembl , and OMIM databases . GO and KEGG enrichment analyses were performed to investigate the biological functions of the enriched genes .
Results :A total of 59 differ- entially expressed miRNAs were identified , including 31 upregulated and 28 downregulated miRNAs . Based on a fold change > 2 and P < 0. 05 , 10 upregulated and 9 downregulated miRNAs with the highest expression levels were selected . Key miRNAs included hsa-let-7b-5p , hsa-let-7c-5p , hsa-let-7b-3p _ 1ss22CT , and hsa-miR-199b-5p , with BACH1 and IFNAR1 identified as their shared target genes . GO analysis revealed that the enriched target genes were primarily involved in protein binding , metal ion binding , transferase activity , DNA binding , transcriptional regulation by RNA polymerase Ⅱ , and nucleotide binding. KEGG pathway analysis indicated that the target genes were mainly associated with metabolic pathways , cancer-related pathways , the PI3K-Akt signaling pathway , and the Rap1 signaling pathway .
Conclusion:Differential expression of miRNAs in amniotic fluid exosomes was ob- served between DS fetuses and those with normal karyotypes . Combined analysis with placental miRNAs revealed hsa-miR-199b-5p as a common differentially expressed miRNA in both DS amniotic fluid and placenta. It is hypoth- esized that BACH1 and IFNAR1 , shared target genes of hsa-miR-199b-5p , hsa-let-7b-5p , hsa-let-7c-5p , and hsa- let-7b-3p_1ss22CT , may play a role in the pathogenesis of DS .
- Full text:2026030409060855068唐氏综合征胎儿羊水外泌体与胎盘差异miRNA的联合分析_张亚勤.pdf
