PROGETTO PRIN BANDO ANNO 2017 ISTITUTO DI NEUROSCIENZE DOTT.SSA VALENTINA GIORGIO (DSB.AD004.244)

Thematic area

Biomedical sciences

Project area

Structure responsible for the research project

Institute of neuroscience (IN)

Project manager

VALENTINA GIORGIO
Phone number: 049/8276361
Email: vgiorgio@bio.unipd.it

Abstract

Fragile X syndrome is the most common form of heritable intellectual disability and autism and belongs to the spectrum of Fragile X related-disorders, caused by a dynamic mutation of the CGG repeat in the 5' UTR of the FMR1 gene encoding for the Fragile X Mental Retardation Protein. Pharmacological approaches based on very promising targets failed to show major clinical benefits illustrating the difficulties to translate the experimental models to the clinic. Currently, no cure exists for FXS. Recent data, including ours, indicate that the processing of the amyloid precursor protein (APP) is dysregulated in the FXS murine brain and in patients' fibroblasts. Furthermore, mitochondrial metabolism and oxidative stress appear to be affected in Fragile X related- disorders and in individuals with autism. Therefore, the APP-mitochondria axis is emerging as a novel avenue for neurodevelopmental disorders. Aims of this project are: 1) to use induced Pluripotent Stem Cells (iPSCs) to model the FXS disease; 2) to recreate in derived and differentiated neurons the defective cellular and molecular pathways; 3) to explore the contribution of sensors, cilia, to the defective neuronal phenotype;

Goals

Aims of this project are: 1) to use induced Pluripotent Stem Cells (iPSCs) to model the FXS disease; 2) to recreate in derived and differentiated neurons the defective cellular and molecular pathways; 3) to explore the contribution of sensors, cilia, to the defective neuronal phenotype; 4) to ameliorate the cellular deficits with new therapeutic approaches.

Start date of activity

31/05/2019

Keywords

neuroscienze

Last update: 19/04/2025