H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder.

Scientists studied two genetic markers (H19 and miR-484) in the blood of people with autism. They found that people with autism had different levels of these markers compared to people without autism. The markers also related to how severe the autism symptoms were. When used together, these markers were very good at identifying autism cases, suggesting they could potentially be used as a blood test to help diagnose autism.

This study investigated H19 (a long non-coding RNA) and miR-484 (a microRNA) as potential biomarkers for autism spectrum disorder (ASD). Researchers found elevated H19 levels and decreased miR-484 levels in ASD patients compared to controls, with both markers correlating with disease severity. Individual biomarkers showed good diagnostic accuracy (AUC 0.878 for H19, 0.868 for miR-484), while their combination achieved superior performance (AUC 0.906). Laboratory analysis confirmed H19 directly targets miR-484, and pathway analysis suggested miR-484's target genes are involved in ASD development, particularly EIF4G2 and SMARCA2.

These findings suggest the H19/miR-484 axis could serve as a molecular diagnostic tool for ASD.

The H19/miR-484 axis shows promise as a molecular biomarker panel for ASD diagnosis with strong discriminatory ability. However, larger validation studies are needed before clinical implementation. The correlation with severity suggests potential utility for monitoring and prognosis.

Sample size not reported, limiting assessment of statistical power. Single study design without replication. Unclear patient demographics and control group characteristics. No information on clinical validation or comparison with existing diagnostic methods.

Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society. The article aimed to explore early diagnostic markers for ASD. Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR). The Spearman method was applied for the correlation analysis with ASD severity.

To evaluate the role of H19 and miR-484 role in ASD diagnosis, the receiver operator characteristic (ROC) curve was plotted. Luciferase reporter assay was used to confirm the targeting relationship between H19 and miR-484. The functions and pathways related to miR-484 target genes were annotated by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Elevated H19 levels were detected in ASD patients, which was positively correlated with disease severity.

MiR-484 showed a decreasing trend in ASD patients, while it was negatively related to disease severity. Both H19 and miR-484 can distinguish ASD cases from controls with an AUC of 0.878 and 0.868, respectively. Luciferase reporter assay determined the target relationship between H19 and miR-484., and their combination showed the highest diagnostic value for ASD (AUC = 0.906). GO and KEGG analysis demonstrated the targeted genes of miR-484 were related to the development of ASD, and EIF4G2 and SMARCA2 were the main core genes.

H19 and miR-484 were dysregulated in ASD patients and were both associated with disease severity. The combined H19 and miR-484 represented a high diagnostic value for ASD.