Citation

Sener EF, Taheri S, Sahin MC, Bayramov KK, Marasli MK, Zararsiz G, Mehmetbeyoglu E, Oztop DB, Canpolat M, Canatan H, Ozkul Y. J. Mol. Neurosci. 2019; 67(1): 89-96.

Affiliation

Department of Medical Genetics, Erciyes University Medical Faculty, 38039, Kayseri, Turkey.

Copyright

(Copyright © 2019, Holtzbrinck Springer Nature Publishing Group)

DOI

10.1007/s12031-018-1213-0

PMID

30519864

Abstract

Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Whole blood samples were obtained from 40 autistic patients (33 boys, 7 girls) and 50 age- and sex-matched controls (37 boys and 13 girls) to isolate RNA. Gene expression was assessed by quantitative Real-Time PCR (qRT-PCR) in the Erciyes University Genome and Stem Cell Center (GENKOK). All of the gene expressions except CRHR1 and SLC6A4 were found to be statistically different between the ASD patients and controls. Gene expression also differed according to gender. Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. Future studies may determine the sensitivity of these candidate markers in larger samples including further neuropsychiatric diagnosis.

Language: en

Keywords

Aggression; Autism spectrum disorders; Gene expression; Insensitivity to pain