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Functional characteristics of previously unstudied genes associated with congenital malformations of the nervous system

by Mitina Natalia | Lobachevsky State University of Nizhny Novgorod

Abstract ID: 663

Event: BGRS-abstracts

Sections: [Sym 7] Section “Animal genetic models of human pathologies on vertebrates and invertebrates”

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Focusing on conditions such as mental retardation, intellectual development delay, and autism, the study aims to uncover unknown molecular pathways associated with these disorders. Utilizing advanced techniques including RNA in situ hybridization and in utero electroporation, the project is aimed to create in vivo models to explore the genetic basis of neurodevelopmental disorders. Initial findings reveal distinct gene expression patterns during embryonic stages and highlight the role of specific genes in regulating the cell cycle progression of neuronal stem cells, differentiation and migration of neurons. Downregulation of these genes results in prolonged cell cycle duration and reduced initiation of neuronal differentiation, potentially impacting the generation of neurons in the neocortex. This research provides insights into the molecular mechanisms of neurodevelopmental disorders, contributing to improved diagnosis, prognosis, and medical genetic counseling for affected individuals.

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