Expression Profile of Circulating miRNAs in Autism Spectrum Disorders Population sample

Autism Spectrum Disorder (ASD) is a common complex disorder, highly heterogeneous and with unclear etiology. While many different rare variants are known to be etiological factors for ASD, they don’t completely explain the genetic variance in this disorder, and common genetic variants could not, thus far, be identified. The possible contribution of epigenetic factors, such as deregulated miRNAs expression, should be addressed. miRNAs are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs. miRNAs play critical roles in several biological processes, and are associated with human pathology. Recent studies have suggested that miRNAs in plasma and serum might be derived from circulating blood cells under healthy conditions, but might be released from pathological tissues during illness. The strong correlation between circulating and tissue miRNAs indicates that circulating miRNAs might be biomarkers for diseases, including central nervous system disorders. We are currently assessing miRNA profiles in plasma from ASD patients and patients with other neurodevelopmental disabilities (eg. psychomotor developmental delay, intellectual disability, etc).