Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Area of Science:

• Genetics
• Neuroscience
• Molecular Biology

Background:

• Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with genetic and environmental influences.
• Genetic and epigenetic alterations in ASD can lead to cellular damage, including inflammation and oxidative stress.

Purpose of the Study:

• To investigate gene expression differences in peripheral blood mononuclear cells of individuals with ASD.
• To identify specific biological pathways and potential biomarkers associated with ASD pathogenesis.

Main Methods:

• RNA sequencing (RNA-seq) was used for transcriptome analysis of 12 ASD patients and 13 healthy controls of Sicilian ancestry.
• Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) were employed to analyze differentially expressed genes.

Main Results:

• A total of 733 statistically significant genes were identified between ASD patients and controls.
• Key associated pathways included "Response to Oxygen-Containing Compound" (Biological Process) and "Mitochondrion" (Cellular Component).
• The gene FPR2, involved in pro-inflammatory responses, was highlighted among differentially expressed genes.

Conclusions:

• Mitochondrial dysfunction and altered responses to oxygen-containing compounds are implicated in ASD.
• The gene FPR2 shows potential as a biomarker for pro-inflammatory processes in ASD, warranting further investigation.