Investigation of SLC6A4 gene expression in autism spectrum disorders
Elif Funda Şener 1 * , Keziban Korkmaz, Didem Behice Öztop, Gökmen Zararsız, Yusuf Özkul
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1 Erciyes Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji AD 38039 Kayseri, Turkey
* Corresponding Author


Objective: Autism is defined as a complex neurodevelopmental disorder. Genetics plays a major role in the etiology of autism spectrum disorders (ASD). The role of the serotonin in the development of autism has been widely investigated. SLC6A4 gene (SERT or 5-HT) has an important role reuptaking of serotonin. Because of this, our study examined the expression level of SLC6A4 gene in autism patients.
Methods: Thirty-four patients (26 male, 8 female) who diagnosed as autism firstly according to DSM-V criteria in the Department of child psychiatry, Erciyes University Medical Faculty and healthy 23 controls (16 male, 7 female) were enrolled in this study. Total RNA was isolated from peripheral blood samples using TRIzol. Quantitative Real-time PCR (qRT-PCR) was performed to detect SLC6A4 gene expression.
Results: SLC6A4 gene expression was found statistically significant and low in autism group compared with controls (p=0,027).
Conclusion: The low gene expression in the patient group implied that there is an abnormality of serotonin reuptake. According to our results, we suggest that much more studies may be planned with the expression and methylation profile of this gene combined with gene polymorphisms especially affecting the expression in larger sample sizes.


This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Research Article

J Clin Exp Invest, 2015 - Volume 6 Issue 2, pp. 165-169

Publication date: 10 Jul 2015

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Article Downloads: 517

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