مقالات پذیرفته شده در هفتمین کنگره بین المللی زیست پزشکی
Reduction of PCAT-29 long non-coding RNA in children with Autism Spectrum Disorder
Reduction of PCAT-29 long non-coding RNA in children with Autism Spectrum Disorder
Vera Ebrahimi,1,*Zeinab Shirvani-Farsani1,2Mehdi Safaeizadeh,3
1. Department of Cell and Molecular Biology, Faculty of Life Sciences and Technology, Shahid Beheshti University, Tehran, Iran 2. Department of Cell and Molecular Biology, Faculty of Life Sciences and Technology, Shahid Beheshti University, Tehran, Iran 3. Department of Plant Biotechnology, Faculty of Life Sciences and Technology, Shahid Beheshti University, Tehran, Iran
Introduction: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children, which refers to a heterogeneous group of impaired neurodevelopmental conditions. The prevalence of ASD has significantly increased over the past 20 years. ASD has a complicated etiology consisting of hundreds of genes and environmental factors. Mainly hereditary factors, history of psychiatric disorders of parents, fetal exposure to psychotropic drugs, and pre-term births are proposed as risk factors for this disorder. Long noncoding RNAs (lncRNAs) have been reported to affect neurodevelopment, thus participating in the risk of autism spectrum disorder (ASD). In the current work, we assessed the expression level of lncRNAs, PCAT-29, in the peripheral blood of children with ASD compared with healthy controls.
Methods: This study was performed using blood samples of 30 children with ASD and 41 healthy controls between the ages of 4 and 15 years old. Peripheral blood was collected from the two mentioned populations. RNA extraction and cDNA synthesis have been done on each blood sample. Specific forward and reverse primers were designed for PCAT-29 and quantitative Real-Time PCR was performed. Graph Pad Prism6 software was used for statistical analysis.
Results: Our study demonstrated that the expression level of PCAT-29 (P value= 0003) was significantly different between ASD patients and healthy control populations. In ASD cases, expression of PCAT-29 was reduced 60 times compared to healthy children. The results of pairwise correlation analysis between expression levels of PCAT-29 in ASD patients and control samples, there was no significant correlation of expression of PCAT-29 between these two populations. Using ROC Curve analysis, the specificity and sensitivity of the expression levels of PCAT-29 were evaluated. The results showed that PCAT-29 with an era under the curve (AUC) of 0.743 and a P value of 0.0005 (sensitivity= 60%, specificity= 80.49%, and cut-off> 5.561) could be used as a diagnostic biomarker for ASD patients.
Conclusion: The result of this study provides clues for an association between the downregulation of PCAT-29 and ASD and also introduces PCAT-29 as a potential diagnostic biomarker for ASD. Generally, diagnosis of ASD is done by scanning social communications and interactions and other behavioral characteristics of patients. Due to the overlapping of some symptoms of ASD with other neurodevelopmental disorders, diagnosis of autism can be extremely complicated and time-consuming; so, using PCAT-29 or other long non-coding RNAs as diagnostic biomarkers for ASD, could be a fast and non-invasive method for diagnosis of named disorder. Due to some limitations that this study faced, further investigations are needed to prove and clarify the mechanism of the contribution of PCAT-29 in pathogen pathways in ASD.