Single Nucleotide Polymorphisms in Oxidative Stress-Related Genes Are Associated with Autism Spectrum Disorders.

This study looked at whether certain genetic differences related to how the body handles cell damage (oxidative stress) are linked to autism. Researchers compared blood samples from 106 children with autism to 90 people without autism. They found that children with autism had specific genetic variations that affect how their bodies respond to cellular stress, and showed signs of more cell damage. This suggests genetics may play a role in autism development.

This case-control study examined genetic variations in oxidative stress-related genes and their association with autism spectrum disorder (ASD). Researchers compared 106 ASD patients (predominantly male, mean age 7.9 years) with 90 healthy controls (mean age 21.2 years). The study analyzed specific gene polymorphisms involved in detoxification and oxidative stress response using PCR-based techniques. Results showed significant associations between ASD and several genetic variants in oxidative stress pathways.

Additionally, ASD patients demonstrated mild oxidative stress status and increased DNA damage in lymphocytes compared to controls. The findings suggest genetic predisposition to altered oxidative stress responses may contribute to ASD development, supporting the multimodal treatment approach currently recommended for autism management.

Results suggest genetic screening for oxidative stress variants may help identify ASD risk. Elevated oxidative stress markers could guide antioxidant supplementation strategies. Findings support personalized medicine approaches and reinforce the need for comprehensive, multimodal treatment protocols in autism management.

Significant age difference between groups (7.9 vs 21.2 years) may confound results. Small sample size limits generalizability. Cross-sectional design cannot establish causality. Male predominance in ASD group may affect genetic association findings.

Autism spectrum disorder (ASD) is a complex group of severe neurodevelopmental disorders characterized by varying degrees of dysfunctional communication and social abilities as well as repetitive and compulsive stereotypic behaviors. We aim to evaluate the genetic predisposition to oxidative response and its relationship with altered oxidative stress markers in ASD patients. Genomic DNA was isolated from peripheral blood lymphocytes of 106 (83 M, 23 F; 7.9 ± 3.2 years) ASD patients and 90 healthy subjects (63 M, 27 F; 21.2 ± 1.8 years). Genotyping was performed by real-time PCR-based allelic discrimination, PCR and electrophoresis of GST deletion variants.

Reactive oxygen metabolites (dROMs), the Biological Antioxidant Potential (BAP), and the advanced oxidation protein products (AOPP) were also measured. Furthermore, we assessed oxidative DNA damage by Single Cell Gel Electrophoresis. The evaluation of oxidative stress markers indicated a mild oxidative stress status and a higher level of DNA damage in nuclei of ASD patients' lymphocytes. We found significant associations between ASD and several polymorphisms of genes involved in the detoxification and the response to oxidative stress.

Genetic and environmental factors contribute to the onset of autism spectrum disorder, and ASD patients' treatment requires a multimodal approach, including behavioral, educational, and pharmacological approaches.