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OpenTrials
Completed

NCT Number: NCT04865198

Neuralized1 and RGS14 Genes

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).

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Key information

Age range

2 year–16 year

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Neurl1 gene expression

Diagnostic Test

This observational case control study. The gene expression was examined.

RGS14 gene expression

Diagnostic Test

This observational case control study. The gene expression was examined.

Primary outcomes

  1. 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.

  2. 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.

Secondary outcomes

  1. Age

    Time frame: an average of 1 year

    Age of subjects

  2. Gender

    Time frame: an average of 1 year

    Gender (male/female) of subjects

  3. 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.

  4. Consanguinity

    Time frame: an average of 1 year

    Relationships of consanguinity between subjects were evaluated in terms of pathogenesis of the disease.

  5. 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.

  6. 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.

Sponsors and collaborators

Lead sponsor

TC Erciyes University

Other

Registry information

Official study title

Role of Neuralized1 and RGS14 Genes With ASD Patients

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Apr 29, 2021
Registry last updated
Jul 26, 2022

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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