Neuralized1 and RGS14 Genes
- Conditions
- Autism Spectrum DisorderHigh-functioning AutismHealthy
- Interventions
- Diagnostic Test: Neurl1 gene expressionDiagnostic Test: RGS14 gene expression
- Registration Number
- NCT04865198
- Lead Sponsor
- TC Erciyes University
- Brief 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 60
- Being diagnosed ASD or HFA patient,
- Being between the ages of 2-16.
- To use medicine,
- Have a other syndromic illness,
- Being younger than 2 years old or over 16 years old.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with Autism Spectrum Disorder (ASD) RGS14 gene expression Patients diagnosed with ASD in a child psychiatry clinic. Healty control Neurl1 gene expression Healthy volunteers who are in the age range compatible with the patient groups. Healty control RGS14 gene expression Healthy volunteers who are in the age range compatible with the patient groups. Patients with High Functioning Autism (HFA) RGS14 gene expression Patients diagnosed with ASD in a child psychiatry clinic and with an IQ above 70. Patients with Autism Spectrum Disorder (ASD) Neurl1 gene expression Patients diagnosed with ASD in a child psychiatry clinic. Patients with High Functioning Autism (HFA) Neurl1 gene expression Patients diagnosed with ASD in a child psychiatry clinic and with an IQ above 70.
- Primary Outcome Measures
Name Time Method NEURL1 gene expression levels Two months After RNA isolation from blood samples of the subjects, NEURL1 gene expression was studied by QPCR method. The 2-ΔΔCT method was applied for the relative quantification of the samples that were normalized with ACTB.
RGS14 gene expression levels Two months After RNA isolation from blood samples of the subjects, RGS14 gene expression was studied by QPCR method. The 2-ΔΔCT method was applied for the relative quantification of the samples that were normalized with ACTB.
- Secondary Outcome Measures
Name Time Method Intellectual disability (ID) an average of 1 year Intellectual disability is when a person has certain limitations in cognitive functioning and skills, including communication, social and self-care skills.It was determined according to DSM-IV diagnostic criteria and clinical evaluation.
Consanguinity an average of 1 year Relationships of consanguinity between subjects were evaluated in terms of pathogenesis of the disease.
Gender an average of 1 year Gender (male/female) of subjects
Presence of Neurological Disease in Relatives an average of 1 year In the presence of a neurological disease in relatives, its relationship with the pathogenesis of the disease was evaluated.
Corelation tests an average of 1 year" The relationships of the clinical and demographical findings in the study groups with the genes were evaluated statistically.
Age an average of 1 year Age of subjects