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Diagnostic Value of Serum miR-499a-5p in Chinese Children with Autism Spectrum Disorders
Jie Ren1, Yanle Bai2, Jielin Gao3
1Department of Neurology, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, China.
Insights
Serum miR-499a-5p levels are significantly reduced in children with autism spectrum disorder (ASD). Lower miR-499a-5p expression correlates with ASD severity and brain structure changes, indicating its potential as an early diagnostic biomarker.
Area of Science:
- Neuroscience
- Genetics
- Biomarkers
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
- Early diagnosis and intervention are crucial for improving outcomes in ASD.
- Identifying reliable biomarkers for ASD is an ongoing research priority.
Purpose of the Study:
- To investigate the expression levels of microRNA-499a-5p (miR-499a-5p) in children diagnosed with ASD.
- To evaluate the diagnostic value of serum miR-499a-5p for early detection of ASD.
- To explore the correlation between miR-499a-5p levels, clinical scores, and brain structural changes in ASD.
Main Methods:
- Retrospective case-control study involving 40 children with ASD and 43 healthy controls.
- Serum miR-499a-5p expression analyzed using quantitative reverse transcription polymerase chain reaction (RT-qPCR).
- Magnetic resonance imaging (MRI) assessed brain structure; Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) evaluated behavioral symptoms.
Main Results:
- Children with ASD exhibited significantly lower serum miR-499a-5p levels compared to healthy controls.
- Receiver operating characteristic (ROC) curve analysis indicated high diagnostic accuracy for miR-499a-5p in ASD.
- Reduced miR-499a-5p levels were negatively correlated with CARS and ABC scores and associated with altered amygdala and caudate nucleus volumes.
Conclusions:
- Decreased serum miR-499a-5p expression is a significant finding in children with ASD.
- miR-499a-5p demonstrates potential as a sensitive and specific biomarker for early ASD diagnosis.
- The study highlights a link between miR-499a-5p dysregulation and neuroanatomical alterations in ASD.
Abstract:
The purpose of this study was to investigate the expression of miR-499a-5p in children with autism spectrum disorders (ASD) and its value in early diagnosis of ASD. This is a retrospective case-control study that included 40 children with ASD as a case group and 43 healthy children as a control group. Magnetic resonance imaging (MRI) was performed on all subjects, and the children were scored with childhood autism rating scale (CARS) and autism behavior checklist (ABC). The expression of miR-499a-5p in serum was detected by RT-qPCR, and the diagnostic value of miR-499a-5p in ASD was evaluated by ROC curve. Pearson correlation coefficient was used to evaluate the correlation between miR-499a-5p levels and scores. Compared with healthy children, the expression level of serum miR-499a-5p was significantly reduced in children with ASD. ROC curve showed that miR-499a-5p is of high diagnostic value for ASD. The results of MRI suggested that the volume of the amygdala in ASD children was significantly larger than that in healthy children, while the volume of the caudate nucleus was significantly reduced. Correlation results showed that the scores of CARS and ABC in the ASD group were significantly negatively correlated with the levels of miR-499a-5p. In the ASD group, the volume of the amygdala was negatively correlated with the level of miR-499a-5p, while the volume of the caudate nucleus was positively correlated with the level of miR-499a-5p. The decreased expression of miR-499a-5p in the serum of children with ASD was significantly related to the changes in brain volume of children with ASD, and the miRNA showed good diagnostic accuracy in children with ASD.
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