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ABSTRACT
Autism is a severe neurodevelopmental disorder with both genetic and epigenetic etiological elements. Currently it is unclear how many genes are associated with autism and how strong the evidence is. Micro-RNA gene expression profiling is considered a promising tool for discovery of autism-related genes and biological pathways because of the dynamic nature of the whole blood transcriptome. The objective of this study was to identify miRNA expression changes in children with autism compared to general population controls. In the present study, we examined miRNA gene expression changes applying custom-made LC Science miRNA expression profiling service, using pooled whole blood-derived total RNA samples in order to evaluate possible miRNA transcripts and networks of molecules associated with the disease. Here, we report molecular evidence for a differentially expressed miR486-3p which has shown brain-specific expression with possible roles in human neuronal differentiation. This study outlines altered miRNAs expression levels observed in peripheral whole blood from autism patients, a finding which suggests that dysregulation of miRNAs may contribute to autism phenotype. Potential and validated target genes for these microRNAs were shown, which include several autism susceptibility genes. The miRNA expression changes involved may help to define the etiology, genetics, and clinical phenotype, as well as the outcome in autism. Further molecular analysis on miRNA gene expression changes will give a more detailed picture about the miRNA associated mechanism in autism.
