Neuralized1 and RGS14 Genes

TC Erciyes University

Status: Completed

Conditions: Healthy; Autism Spectrum Disorder; High-functioning Autism

Treatments: Diagnostic Test: RGS14 gene expression; Diagnostic Test: Neurl1 gene expression

Study type: Observational

Funder types: Other

Identifiers

NCT04865198

NEURL1RGS14

Details and patient eligibility

About

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).

Full 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.

Enrollment: 60 patients

Sex: All

Ages: 2 to 16 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Being diagnosed ASD or HFA patient,
• Being between the ages of 2-16.

Exclusion criteria

• To use medicine,
• Have a other syndromic illness,
• Being younger than 2 years old or over 16 years old.

Trial design

60 participants in 3 patient groups

Patients with Autism Spectrum Disorder (ASD)

Description:

Patients diagnosed with ASD in a child psychiatry clinic.

Treatment:

Diagnostic Test: RGS14 gene expression

Diagnostic Test: Neurl1 gene expression

Patients with High Functioning Autism (HFA)

Description:

Patients diagnosed with ASD in a child psychiatry clinic and with an IQ above 70.

Treatment:

Diagnostic Test: RGS14 gene expression

Diagnostic Test: Neurl1 gene expression

Healty control

Description:

Healthy volunteers who are in the age range compatible with the patient groups.

Treatment:

Diagnostic Test: RGS14 gene expression

Diagnostic Test: Neurl1 gene expression