Neuralized1 and RGS14 Genes
Study Details
Study Description
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).
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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 Design
Arms and Interventions
| Arm | 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.
|
Outcome Measures
Primary Outcome Measures
- 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
- Age [an average of 1 year]
Age of subjects
- Gender [an average of 1 year]
Gender (male/female) of subjects
- 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.
- 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.
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Being diagnosed ASD or HFA patient,
-
Being between the ages of 2-16.
Exclusion Criteria:
-
To use medicine,
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Have a other syndromic illness,
-
Being younger than 2 years old or over 16 years old.
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- 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
Study Documents (Full-Text)
None provided.More Information
Additional Information:
- Centers for Disease Control and Prevention, Data and Statistics on Autism Spectrum Disorder
- American Psychiatric Association. Diagnostic and statistical manual of mental disorders
Publications
- Ansel A, Rosenzweig JP, Zisman PD, Melamed M, Gesundheit B. Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies. Front Neurosci. 2017 Jan 5;10:601. doi: 10.3389/fnins.2016.00601. eCollection 2016. Review.
- Besag FM. Epilepsy in patients with autism: links, risks and treatment challenges. Neuropsychiatr Dis Treat. 2017 Dec 18;14:1-10. doi: 10.2147/NDT.S120509. eCollection 2018. Review.
- Charman T, Baird G. Practitioner review: Diagnosis of autism spectrum disorder in 2- and 3-year-old children. J Child Psychol Psychiatry. 2002 Mar;43(3):289-305. Review.
- Ito H, Morishita R, Nagata KI. Autism spectrum disorder-associated genes and the development of dentate granule cells. Med Mol Morphol. 2017 Sep;50(3):123-129. doi: 10.1007/s00795-017-0161-z. Epub 2017 May 22. Review.
- Lamsa K, Lau P. Long-term plasticity of hippocampal interneurons during in vivo memory processes. Curr Opin Neurobiol. 2019 Feb;54:20-27. doi: 10.1016/j.conb.2018.08.006. Epub 2018 Sep 5. Review.
- Landsiedel J, Williams DM, Abbot-Smith K. A Meta-Analysis and Critical Review of Prospective Memory in Autism Spectrum Disorder. J Autism Dev Disord. 2017 Mar;47(3):646-666. doi: 10.1007/s10803-016-2987-y. Review.
- Misra V. The social brain network and autism. Ann Neurosci. 2014 Apr;21(2):69-73. doi: 10.5214/ans.0972.7531.210208. Review.
- O'Brien G, Pearson J. Autism and learning disability. Autism. 2004 Jun;8(2):125-40. Review.
- Rao PA, Beidel DC, Murray MJ. Social skills interventions for children with Asperger's syndrome or high-functioning autism: a review and recommendations. J Autism Dev Disord. 2008 Feb;38(2):353-61. Epub 2007 Jul 20. Review.
- Richter JD. Cytoplasmic polyadenylation in development and beyond. Microbiol Mol Biol Rev. 1999 Jun;63(2):446-56. Review.
- Sener EF, Cıkılı Uytun M, Korkmaz Bayramov K, Zararsiz G, Oztop DB, Canatan H, Ozkul Y. The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders. Metab Brain Dis. 2016 Jun;31(3):613-9. doi: 10.1007/s11011-016-9795-0. Epub 2016 Jan 19.
- Sullivan JM, De Rubeis S, Schaefer A. Convergence of spectrums: neuronal gene network states in autism spectrum disorder. Curr Opin Neurobiol. 2019 Dec;59:102-111. doi: 10.1016/j.conb.2019.04.011. Epub 2019 Jun 18. Review.
- Vellano CP, Lee SE, Dudek SM, Hepler JR. RGS14 at the interface of hippocampal signaling and synaptic plasticity. Trends Pharmacol Sci. 2011 Nov;32(11):666-74. doi: 10.1016/j.tips.2011.07.005. Epub 2011 Sep 8. Review.
- Zeithamova D, Schlichting ML, Preston AR. The hippocampus and inferential reasoning: building memories to navigate future decisions. Front Hum Neurosci. 2012 Mar 26;6:70. doi: 10.3389/fnhum.2012.00070. eCollection 2012.
- NEURL1RGS14