Investigation of miRNA expression in blood cells from individuals diagnosed with Autism Spectrum Disorder (ASD) and from their fathers

Abstract

The sncRNAs compose one of epigenetic regulatory mechanisms of genetic expression. The miRNAs are examples of sncRNA and dysregulation of their levels were already found in patients with psychiatric disorders, including autism spectrum disorder (ASD). ASD is characterized by communication and social interaction impairments, repetitive behaviors and restricted interests. This disorder presents different severity levels and the severity of the symptoms may vary substantially. Most ASD cases are not related to known genetic syndromes and do not present well stablished genetic factors, so that ASD diagnosis is fundamentally clinic. Therefore, the aim of this study is to investigate miRNAs expression in blood cells from individuals with autism spectrum disorder (ASD) and in blood cells from their fathers as part of a broader study from our group about epigenetic inheritance of autism through the sperm. Patients with ASD and their fathers will be recruited for blood samples collection. From this samples, the peripheral blood mononuclear cells (PBMC) will be obtained. Blood cells will be submitted to miRNAs extraction for following analysis of miRNA expression by RT-qPCR. The data obtained will be compared with those obtained from neurons (differentiated from iPSC) and sperm of fathers of ASD patients in two other parallel studies of our group. In addition, this study may contribute to the establishment of potential biomarkers for ASD diagnosis.