Etiological Role of SHANK Genes in Autism Spectrum Disorders: In Search for Diagnostic Marker

Autism spectrum disorders (ASDs) are a group of polygenic and multifactorial neurodevelopmental disorders. Etiological heterogeneity makes establishing definitive diagnosis difficult. Most commonly studied molecular biomarkers are cytokines, growth factors, oxidative stress measurements, neurotransmitters, and hormones, followed by neurophysiological studies. SHANK gen family encodes SHANK proteins, the main anchoring proteins located in the postsynaptic density (PSD). Based on the latest reports we aimed at assessing the expression of genes from the SHANK family and SHARPIN in the peripheral venous blood mononuclear cells (PBMCs) in patients with ASD to search for possible alternative diagnostic tools. The results suggest the peripheral blood is an accessible, though not easily collected diagnostic material. The examined group was too small to conclude that the expression of SHANK1, SHANK2, SHANK3, and SHARPIN genes in the PBMCs can be used as a possible biomarker facilitating diagnosis and treatment of ASD.