Neuralized1 and RGS14 Genes
Condition: Autism Spectrum Disorder; High-functioning Autism; Healthy
MeSH terms: Autistic Disorder; Autism Spectrum Disorder
Study type: Observational

Summary: 
      Autism is a broad spectrum neurodevelopmental disease. Some individuals with ADS by high
      cognitive functions are diagnosed with High Functioning Autism (HFA). In some studies, it has
      been shown that NEURL1 gene increases learning and memory and RGS14 gene is suppressed them.
      We aimed to evaluate the differences between the expression levels of these genes between
      ASD, HFA and healthy controls and the role of these genes in the pathogenesis of ASD.
      Patients with 20 ASD and 20 HFA, and 20 healthy controls compatible with patient ages were
      included in this study. Expression of NEURL-1 and RGS14 genes was evaluated by quantitative
      Real Time PCR (qRT-PCR).
    

Detailed description: 
      ASD is a neurological disease starting in the early stages of life and is characterized by
      cognitive and behavioral disorders (Ansel et al., 2008;Alvares et al., 2020). It is
      considered that the etiology of ASD stems from genetic, epigenetic and environmental factors;
      however, it has not yet been definitively clarified(Ito et al., 2017).

      we aimed to evaluate the differences between the expression levels of these genes between
      ASD, HFA and healthy controls and the role of these genes in the pathogenesis of ASD.

      Method:

      Patients with ASD (n=20) and HFA (n=20), and healthy controls (n=20) compatible with patient
      ages were included in this study. Clinical evaluations of the patients were made and
      classification was made in accordance with DSM-IV diagnostic criteria.

      High Pure RNA Isolation Kit (Roche Diagnostic, Version 12, Germany) was used for RNA
      isolation. cDNA synthesis was performed from these RNAs with the ranscriptor High Fidelity
      cDNA Synthesis Kit (Roche Diagnostics, GmbH, Mannheim).

      qRT-PCR was performed using the LightCycler®480 Real Time Ready Assay Master Probe Kit (Roche
      Diagnostics, GmbH, Mannheim).The incubation was made with the PCR device program for 10
      minutes at 95oC for 45 cycles, for 10 sec at 95oC, and for 60 sec at 60oC. The Ct values were
      obtained from the Light Cycler 480 Software Program, and both genes were analyzed separately.
      The comparative CT method (2-ΔΔCT) was used to determine the relative quantification of
      target genes, normalized to a housekeeping gene (β-actin).

      Statisticaly:

      The results of the experiments were evaluated using R 3.1.1 (www.r-project.org). and
      Chi-Square Tests, Mann-Whitney U-Test, Kruskal-Wallis H-Tests. The P<0.05 level was taken as
      significant.
    

Intervention name(s): Neurl1 gene expression; RGS14 gene expression
Intervention type(s): Diagnostic Test; Diagnostic Test
Intervention description(s): This observational case control study. The gene expression was examined.; This observational case control study. The gene expression was examined.
Observational model: Other
Time perspective: Cross-Sectional
Sampling method: Probability Sample
Study population: 
        Group 1: Patients diagnosed with ASD in a child psychiatry clinic. Group 2: Patients
        diagnosed with HFA in a child psychiatry clinic. Group 3: Healty controls
      
Biospecimen description: 
      In this study, 2 ml of peripheral blood was taken from each subject. RNA was isolated from
      peripheral blood followed by cDNA synthesis. RNA and cDNA samples of the subjects were
      preserved.
    
Keywords: ASD; High Functioning Autism; NEURL1; RGS14; Gene expression