Epigenetic Inheritance of Autism Spectrum Disorder (ASD): investigation of sncRNA involvement via buccal swab

Abstract

Autism, defined in disease classification manuals as autism spectrum disorder (ASD), is a condition related to neurodevelopment, characterized by difficulties in the areas of communication and social interaction, and may exhibit repetitive behaviors. The inheritance of autism is still not understood and research seeks to explain this condition through the interaction between genetic and environmental factors translated by epigenetics. MicroRNAs represent one of the epigenetic mechanisms and can be associated with abnormalities in brain development and autism, making them possible candidates for biomarkers. In search of less invasive and less expensive methods of collecting samples for studies, buccal swabs are an alternative. In view of this, this project aims to evaluate the validity of buccal swab samples for analyzing the expression of miRNAs related to autism. For this, buccal swab samples were collected from participants diagnosed with autism and control individuals. The extraction of miRNAs will be carried out using the High Pure miRNA Isolation kit and the analysis of their expression will be performed by RT-qPCR using TaqMan reagents. This study has already started and some samples have already been collected.