Analysis of genetic and epigenetic factors in neurodevelopment

• Grant number: 25/03140-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2025
• End date: March 31, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Marcos Leite Santoro
• Grantee: André Veloso Guerra
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 23/05560-6 - Genetic and epigenetic approaches as predictive models in mental disorders, AP.JP

Abstract

Cerebral development is a dynamic process that spans from conception to adolescence, influenced by genetic, epigenetic, and environmental factors. Alterations in these factors can impact both the structure and function of the brain, thereby increasing susceptibility to psychiatric disorders (PDs). One of the primary limitations in investigating the biological mechanisms associated with PDs is the challenge of accessing the brain in living individuals. In this context, extracellular vesicles (EVs) have emerged as promising tools, as they transport biomolecules, including microRNAs (miRNAs), that reflect cellular processes across various tissues. Furthermore, certain EVs are capable of crossing the blood-brain barrier, thereby facilitating indirect analysis of cerebral alterations.Both genetic variants and miRNA expression play pivotal roles in neurodevelopment and the associated risk of PDs; however, their relationship with brain volume variation remains insufficiently understood. Thus, this study aims to investigate the influence of genetic variants and the expression of miRNAs derived from extracellular vesicles (EV-miRNAs) on brain volume variation during the postnatal developmental phase, with a focus on children and adolescents. To achieve this, data from 120 individuals will be analyzed, integrating genetic, epigenetic, and neuroimaging information. It is anticipated that the findings of this study will contribute to a deeper understanding of the biological mechanisms underlying cerebral alterations, whether or not they are associated with the onset of mental disorders. Additionally, the results may provide a foundation for future research exploring the relationship between genetic variants and the differential expression of EV-miRNAs as potential biomarkers for neuropsychiatric risks.