Bioinformatic Analysis of Autism-Related miRNAs and Their PoTential as Biomarkers for Autism Epigenetic Inheritance

The dysregulation of miRNA expression in samples from autistic individuals indicates that they are involved in autism. The participation of miRNAs in paternal epigenetic inheritance has also been reported. This study used bioinformatics tools to analyze the literature and genetic databases to search for miRNAs associated with autism, aiming to explore their suitability to investigate paternal epigenetic inheritance.

Autism-related miRNAs were searched in public databases using bioinformatic tools (miRNA-to-genes analysis). The genes targeted by these autism-related miRNAs, which are common to neurons, sperm, and PBMCs, were identified. Enrichment analyses were performed to identify the biological processes regulated by the candidate miRNAs. Autism-related miRNAs were also identified by an inverse analysis (genes-to-miRNA analysis), starting from autism-related genes.

In the miRNA-to-gene analysis, 416 miRNAs involved in autism were found, of which 77 were expressed in sperm, PBMCs, and neurons. From these, 18 were differentially expressed in the brain and in at least one peripheral sample (saliva or blood), suggesting that they might be suitable to be used in the investigation of autism biomarkers and inheritance. In the genes-to-miRNA analysis, 36 miRNAs were identified, from which 9 coincided with the results of direct analysis.

Although there is no consensus about miRNAs related to autism, there are candidate miRNAs that show clear potential to be explored as biomarkers. The coincidence in the expression of miRNAs in sperm, neurons, and PBMCs indicates that they are valuable biological samples to study the role of miRNAs in the paternal epigenetic inheritance of autism.