Effect of inflammation-inducing agents in Autism Spectrum Disorder (ASD)

• Grant number: 22/11347-0
• Support Opportunities: Scholarships in Brazil - Program to Stimulate Scientific Vocations
• Start date: January 09, 2023
• End date: February 24, 2023
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Maria Rita dos Santos e Passos Bueno
• Grantee: Vinícius Araújo Estevão
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Autism Spectrum Disorder (ASD) is characterized as a complex disorder of theearly-onset neurodevelopment. Common features like insulationsocial, narrow interests, stereotyped and repetitive behaviors are alwaysgifts. Etiological heterogeneity and complex behavioral symptomsmake it difficult to understand ASD. More than 1,000 genes have been associated with ASD, and environmental factors that lead to neuroinflammation, such as valproic acid (VPA) and maternal immune activation, may influence the development of ASD. Haploinsufficiency of the SHANK3 gene, responsible for Phelan-McDermid Syndrome (PMS), is one such example. Our laboratory has sought to understand mechanisms associated with variability clinical disease associated with Phelan-McDermid Syndrome (PMS), in particular, induction of neurodegenerative process that is observed in at least 50% of patients. There isevidence in the literature that inflammatory processes may be a risk factor foractivation of the neurodegeneration process. In this way, the student will participate in the project under development in our laboratory whose main objective is toto verify whether cells with SHANK3 haploinsufficiency respond differently to exposure of inflammatory agents to cells with normal levels of SHANK3. The response to exposure of these inflammatory agents will be carried out byanalysis of the transcriptional profile of genes of the SHANK3 pathway. (AU)