| Autor: |
Salemi M; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Schillaci FA; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Lanza G; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Department of Surgery and Medical-Surgical Specialties, University of Catania, 95124 Catania, Italy., Marchese G; Genomix4Life S.r.l., 84081 Baronissi, Italy.; Genome Research Center for Health-CRGS, 84081 Baronissi, Italy., Salluzzo MG; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Cordella A; Genomix4Life S.r.l., 84081 Baronissi, Italy.; Genome Research Center for Health-CRGS, 84081 Baronissi, Italy., Caniglia S; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Bruccheri MG; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Truda A; Genomix4Life S.r.l., 84081 Baronissi, Italy.; Genome Research Center for Health-CRGS, 84081 Baronissi, Italy., Greco D; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Ferri R; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Romano C; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Department of Biomedical and Biotechnological Sciences, University of Catania, 95124 Catania, Italy. |
| Abstrakt: |
ASD is a complex condition primarily rooted in genetics, although influenced by environmental, prenatal, and perinatal risk factors, ultimately leading to genetic and epigenetic alterations. These mechanisms may manifest as inflammatory, oxidative stress, hypoxic, or ischemic damage. To elucidate potential variances in gene expression in ASD, a transcriptome analysis of peripheral blood mononuclear cells was conducted via RNA-seq on 12 ASD patients and 13 healthy controls, all of Sicilian ancestry to minimize environmental confounds. A total of 733 different statistically significant genes were identified between the two cohorts. Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) terms were employed to explore the pathways influenced by differentially expressed mRNAs. GSEA revealed GO pathways strongly associated with ASD, namely the GO Biological Process term "Response to Oxygen-Containing Compound". Additionally, the GO Cellular Component pathway "Mitochondrion" stood out among other pathways, with differentially expressed genes predominantly affiliated with this specific pathway, implicating the involvement of different mitochondrial functions in ASD. Among the differentially expressed genes, FPR2 was particularly highlighted, belonging to three GO pathways. FPR2 can modulate pro-inflammatory responses, with its intracellular cascades triggering the activation of several kinases, thus suggesting its potential utility as a biomarker of pro-inflammatory processes in ASD. |
