Evaluation of DNA repair capacity in parents of pediatric patients diagnosed with autism spectrum disorder using the comet assay procedure

Mansoureh Akouchekian; Rasoul Alizadeh; Fatemeh Beiranvandi; Masoumeh Dehghan Manshadi; Fatemeh Taherizadeh; Mitra Hakim Shooshtari

doi:10.1016/j.ibneur.2023.10.003

Evaluation of DNA repair capacity in parents of pediatric patients diagnosed with autism spectrum disorder using the comet assay procedure

IBRO Neurosci Rep. 2023 Oct 19:15:304-309. doi: 10.1016/j.ibneur.2023.10.003. eCollection 2023 Dec.

Authors

Mansoureh Akouchekian¹, Rasoul Alizadeh¹, Fatemeh Beiranvandi¹, Masoumeh Dehghan Manshadi², Fatemeh Taherizadeh³, Mitra Hakim Shooshtari⁴

Affiliations

¹ Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
² Department of Molecular Medicine, Faculty of Advanced Technologies in Medicine, Iran University of Medical Sciences, Tehran, Iran.
³ Department of Information and Communication, Faculty 3, Hanover University of Applied Sciences and Arts, Hanover, Germany.
⁴ Mental Health Research Center, Tehran Institute of Psychiatry - School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Abstract

Background: Autism Spectrum Disorder (ASD) is characterized by impairments in social communication, limited repetitive behaviors, impaired language development, and interest or activity patterns, which include a group complex neurodevelopmental syndrome with diverse phenotypes that reveal considerable etiological and clinical heterogeneity and are also considered one of the most heritable disorders (over 90%). Genetic, epigenetic, and environmental factors play a role in the development of ASD.

Aim: This study was designed to investigate the extent of DNA damage in parents of autistic children by treating peripheral blood mononuclear cells (PBMCs) with bleomycin and hydrogen peroxide (H2O2).

Methods: Peripheral blood mononuclear cells (PBMCs) were isolated by the Ficoll method and treated with a specific concentration of bleomycin and H2O2 for 30 min and 5 min, respectively. Then, the degree of DNA damage was analyzed by the alkaline comet assay or single cell gel electrophoresis (SCGE), an effective way to measure DNA fragmentation in eukaryotic cells.

Results: Our findings revealed that there is a significant difference in the increase of DNA damage in parents with affected children compared to the control group, which can indicate the inability of the DNA molecule repair system. Furthermore, our study showed a significant association between fathers' occupational difficulties (exposed to the influence of environmental factors), as well as family marriage, and suffering from ASD in offspring.

Conclusion: Our results suggested that the influence of environmental factors on parents of autistic children may affect the development of autistic disorder in their offspring. Subsequently, based on our results, investigating the effect of environmental factors on the amount of DNA damage in parents with affected children requires more studies.

Keywords: ASD; Autism; Autism spectrum disorder; Comet assay; DNA damage; DNA repair.