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Profiling of Circulating Serum MicroRNAs in Children with Autism Spectrum Disorder using Stem-loop qRT-PCR Assay
Tatyana M Kichukova1, Nikolay T Popov2, Ivan S Ivanov3
1Department of Plant Physiology and Molecular Biology, The "Paisii Hilendarski" University of Plovdiv, 24 "Tzar Assen" St., 4000 Plovdiv.
Background:
Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheral blood, serum and post-mortem brain tissue have been linked to ASD. miRNAs are known to be secreted by various cell types and can mediate transmission of information into recipient cells and to modulate their physiological functions. On this basis it is assumed that circulating miRNAs could be useful biomarkers for the diagnosis or prognosis of pathological conditions.
Aim:
The aim of this study was to test whether circulating miRNAs display differential expression profile in serum of ASD patients.
Patients And Methods:
The relative expression levels of 42 miRNAs were analyzed by stem-loop qRT-PCR assay in the serum of ASD patients compared to healthy controls.
Results:
The results indicated that 11 miRNAs in ASD patients were substantially higher expressed than these in control subjects, and 29 miRNAs were lower expressed, respectively. In addition, target gene analysis displayed that the altered serum miRNAs targeted some important genes like alpha 1C subunit of voltage-dependent calcium channel, L type, (CACNA1C), beta 1 subunit of voltage-dependent calcium channel (CACNB1) and other genes involved in epigenetic processes like dicer 1, coding ribonuclease type III (DICER).
Conclusion:
Our results suggested that differentially expressed miRNAs in serum might be involved in ASD molecular pathways, and serum miR-424-5p, miR-197- 5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR- 365a-3p might be able to serve as potential biomarkers for ASD because they displayed significant alterations in the expression profile in children diagnosed with ASD.
Insights
This study reveals that specific microRNAs (miRNAs) in the blood show altered expression in children with autism spectrum disorder (ASD). These findings suggest that certain miRNAs could serve as potential biomarkers for diagnosing ASD.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Biomarker development for autism spectrum disorder (ASD) remains a significant challenge.
- Alterations in microRNA (miRNA) expression in peripheral blood and serum have been associated with ASD.
- Circulating miRNAs are secreted and can modulate cellular functions, suggesting their potential as diagnostic or prognostic biomarkers.
Purpose of the Study:
- To investigate differential expression profiles of circulating miRNAs in the serum of individuals with ASD compared to healthy controls.
- To identify specific miRNAs that may serve as potential biomarkers for ASD diagnosis.
Main Methods:
- Analysis of relative expression levels of 42 miRNAs using stem-loop quantitative reverse transcription polymerase chain reaction (qRT-PCR) assay.
- Comparison of miRNA expression in serum samples from ASD patients and healthy control subjects.
Main Results:
- Eleven miRNAs exhibited significantly higher expression in ASD patients, while 29 miRNAs showed lower expression compared to controls.
- Target gene analysis indicated that altered serum miRNAs target key genes involved in calcium channel function (CACNA1C, CACNB1) and epigenetic processes (DICER).
Conclusions:
- Differentially expressed serum miRNAs are potentially involved in the molecular pathways of ASD.
- Specific miRNAs, including miR-424-5p, miR-197-5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR-365a-3p, show significant alterations and may serve as potential biomarkers for ASD in children.