Neuralized1 and RGS14 Genes

July 22, 2022 updated by: Yusuf Ozkul, TC Erciyes University

Role of Neuralized1 and RGS14 Genes With ASD Patients

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).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Actual)

60

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 16 years (CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with Autism Spectrum Disorder (ASD)
Patients diagnosed with ASD in a child psychiatry clinic.
Diagnostic test: Neurl1 gene expression
This observational case control study. The gene expression was examined.
Diagnostic test: RGS14 gene expression
This observational case control study. The gene expression was examined.
Patients with High Functioning Autism (HFA)
Patients diagnosed with ASD in a child psychiatry clinic and with an IQ above 70.
Diagnostic test: Neurl1 gene expression
This observational case control study. The gene expression was examined.
Diagnostic test: RGS14 gene expression
This observational case control study. The gene expression was examined.
Healty control
Healthy volunteers who are in the age range compatible with the patient groups.
Diagnostic test: Neurl1 gene expression
This observational case control study. The gene expression was examined.
Diagnostic test: RGS14 gene expression
This observational case control study. The gene expression was examined.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
NEURL1 gene expression levels
Time Frame: 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.
Two months
RGS14 gene expression levels
Time Frame: 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.
Two months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Age
Time Frame: an average of 1 year
Age of subjects
an average of 1 year
Gender
Time Frame: an average of 1 year
Gender (male/female) of subjects
an average of 1 year
Intellectual disability (ID)
Time Frame: 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.
an average of 1 year
Consanguinity
Time Frame: an average of 1 year
Relationships of consanguinity between subjects were evaluated in terms of pathogenesis of the disease.
an average of 1 year
Presence of Neurological Disease in Relatives
Time Frame: an average of 1 year
In the presence of a neurological disease in relatives, its relationship with the pathogenesis of the disease was evaluated.
an average of 1 year
Corelation tests
Time Frame: an average of 1 year"
The relationships of the clinical and demographical findings in the study groups with the genes were evaluated statistically.
an average of 1 year"

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

TC Erciyes University

Investigators

  • Principal Investigator: Hamiyet Eciroğlu, Phd. St., Alanya Alaaddin Keykubat University
  • Principal Investigator: Elif F. Şener, Assoc. Prof., TC Erciyes University
  • Principal Investigator: Didem B. Öztop, Assoc. Prof., Ankara University
  • Principal Investigator: Sevgi Özmen, Assoc. Prof., TC Erciyes University
  • Principal Investigator: Dilek Kaan, Phd., TC Erciyes University
  • Study Chair: Yusuf Özkul, Prof. Dr., TC Erciyes University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 10, 2013

Primary Completion (ACTUAL)

August 30, 2014

Study Completion (ACTUAL)

August 30, 2014

Study Registration Dates

First Submitted

April 20, 2021

First Submitted That Met QC Criteria

April 26, 2021

First Posted (ACTUAL)

April 29, 2021

Study Record Updates

Last Update Posted (ACTUAL)

July 26, 2022

Last Update Submitted That Met QC Criteria

July 22, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NEURL1RGS14

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

The details and reports of the study will be shared after the article is published.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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