Introduction: Autism spectrum disorders (ASD) are the most prevalent neurobiological disorders in children. The etiology comprises genetic, epigenetic, and environmental factors such as dysfunction of the immune system. Epigenetic mechanisms are mainly represented by DNA methylation, histone modifications, and microRNAs (miRNA). The major explored epigenetic mechanism is mediated by miRNAs which target genes known to be involved in ASD pathogenesis. Salivary poly-omic RNA measurements have been associated with ASD and are helpful to differentiate ASD endophenotypes. This study aims to comprehensively examine miRNA expression in children with ASD and to reveal potential biomarkers and possible disease mechanisms so that they can be used to improve faction between individuals by promoting more personalized therapeutic approaches. Materials and methods: Saliva samples were collected from 10 subjects: 5 samples of children with ASD and 5 from healthy controls. miRNAs were analyzed using an Illumina Next-Generation-Sequencing (NGS) system. Results: Preliminary data highlighted the presence of 365 differentially expressed miRNAs. Pathway analysis, molecular function, biological processes, and target genes of 41 dysregulated miRNAs were assessed, of which 20 were upregulated, and 21 were downregulated in children with ASD compared to healthy controls. Conclusion: The results of this study represent preliminary but promising data, as the identified miRNA pathways could represent useful biomarkers for the early non-invasive diagnosis of ASD.

Salivary microRNA profiling dysregulation in autism spectrum disorder: A pilot study / Z. Kalemaj, M.M. Marino, A.C. Santini, G. Tomaselli, A. Auti, M.G. Cagetti, T. Borsello, A. Costantino, F. Inchingolo, M. Boccellino, M. Di Domenico, G.M. Tartaglia. - In: FRONTIERS IN NEUROSCIENCE. - ISSN 1662-453X. - (2022). [Epub ahead of print] [10.3389/fnins.2022.945278]

Salivary microRNA profiling dysregulation in autism spectrum disorder: A pilot study

Z. Kalemaj
Primo
;
G. Tomaselli;M.G. Cagetti;T. Borsello;G.M. Tartaglia
Ultimo
2022

Abstract

Introduction: Autism spectrum disorders (ASD) are the most prevalent neurobiological disorders in children. The etiology comprises genetic, epigenetic, and environmental factors such as dysfunction of the immune system. Epigenetic mechanisms are mainly represented by DNA methylation, histone modifications, and microRNAs (miRNA). The major explored epigenetic mechanism is mediated by miRNAs which target genes known to be involved in ASD pathogenesis. Salivary poly-omic RNA measurements have been associated with ASD and are helpful to differentiate ASD endophenotypes. This study aims to comprehensively examine miRNA expression in children with ASD and to reveal potential biomarkers and possible disease mechanisms so that they can be used to improve faction between individuals by promoting more personalized therapeutic approaches. Materials and methods: Saliva samples were collected from 10 subjects: 5 samples of children with ASD and 5 from healthy controls. miRNAs were analyzed using an Illumina Next-Generation-Sequencing (NGS) system. Results: Preliminary data highlighted the presence of 365 differentially expressed miRNAs. Pathway analysis, molecular function, biological processes, and target genes of 41 dysregulated miRNAs were assessed, of which 20 were upregulated, and 21 were downregulated in children with ASD compared to healthy controls. Conclusion: The results of this study represent preliminary but promising data, as the identified miRNA pathways could represent useful biomarkers for the early non-invasive diagnosis of ASD.
autism spectrum disorder (ASD); miRNA; salivary poly-omic RNA; biomarkers; miRNAs targeted genes
Settore BIO/16 - Anatomia Umana
Settore BIO/14 - Farmacologia
Settore MED/28 - Malattie Odontostomatologiche
19-ott-2022
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/943310
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