Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder.

Autor: Baris RO; Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey., Sahin N; Department of Child and Adolescent Mental Health Diseases School of Medicine, Muğla Sıtkı Koçman University, Mugla, Turkey., Bilgic AD; Department of Medical Biology, Health Sciences Institution, Muğla Sıtkı Koçman University, Mugla, Turkey., Ozdemir C; Department of Medical Biology, Health Sciences Institution, Muğla Sıtkı Koçman University, Mugla, Turkey. cilemmozdemir@gmail.com., Edgunlu TG; Department of Medical Biology, School of Medicine, Muğla Sıtkı Koçman University, Mugla, 48000, Turkey.
Jazyk: angličtina
Zdroj: Irish journal of medical science [Ir J Med Sci] 2023 Dec; Vol. 192 (6), pp. 2887-2895. Date of Electronic Publication: 2023 May 11.
DOI: 10.1007/s11845-023-03402-w
Abstrakt: Background: Defects in neurotransmission and synaptogenesis are noteworthy in the pathogenesis of ASD. Synapsin III (SYN III) is defined as a synaptic vesicle protein that plays an important role in synaptogenesis and regulation of neurotransmitter release and neurite outgrowth. Therefore, SYN III may associate with many neurodevelopmental diseases, including ASD.
Aim: The aim of this study was to investigate whether the SYN III gene -631 C > G (rs133946) and -196 G > A (rs133945) polymorphisms are associated with susceptibility to ASD.
Methods: SYN III variants and the risk of ASD were investigated in 26 healthy children and 24 ASD children. SYN III gene variants were genotyped by PCR-RFLP methods. The differences in genotype and allele frequencies between the ASD and control groups were calculated using the chi-square (χ2). We analysed the SYN III gene using web-based tools.
Results: Our results suggest that the presence of the AA genotype of the SYN III -196 G > A (rs133945) polymorphism affects the characteristics and development of ASD in children (p = 0.012). SYN III -631 C > G (rs133946) polymorphism was not associated with ASD (p = 0.524). We have shown the prediction of gene-gene interaction that SYN III is co-expressed with 17 genes, physical interaction with 3 genes, and co-localization with 12 genes. The importance of different genes (SYN I, II, III, GABRD, NOS1AP, GNAO1) for ASD pathogenesis was revealed by GO analysis.
Conclusion: Considering the role of SYN III and related genes, especially in the synaptic vesicle pathway and neurotransmission, its effect on ASD can be further investigated.
(© 2023. The Author(s), under exclusive licence to Royal Academy of Medicine in Ireland.)
Databáze: MEDLINE
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