FRAXA Borreca - Characterization of microglia transcriptional profile in fmr1ko mice model (DSB.AD004.364)
Area tematica
Area progettuale
Neuroscienze (DSB.AD004)Struttura responsabile del progetto di ricerca
Responsabile di progetto
ANTONELLA BORRECA
Telefono: 0282245254
E-mail: antonella.borreca@in.cnr.it
Abstract
The fragile X Syndrome (FXS) is the most common neurodevelopmental disorder associated to intellectual disabilities. The main cause of pathology is the increased CGG triplet repetition (more than 200) in the fmr1 gene causing the hypermethylated 5'UTR and as a consequence the silencing of gene. This hypermethylated region causes the absence of Fragile X mental retardation protein (FMRP), an RNA binding protein, able to regulate the expression of different RNA, fundamental for the synapses formation and function.
Infact, one of the main features of FXS patient and fmr1ko mice, is the increasing of spine which appear also thin and immature. FMRP is expressed in neurons but also in astrocytes and microglia, the other key cells of brain. All scientific community focused attention on the role of FMRP in neurons and locally at synapses while no strong evidence supports the role of the protein in other cells types. Our preliminary results demonstrated the hyperactivation of microglia, measured with phagocytic marker CD68, and the increasing of transcriptor factor PU.1 specifically expressed in microglia cells, in p20 fmr1ko mice. Activated microglia is one of feature of different neurodeg
Data inizio attività
01/09/2021
Parole chiave
fmr1ko, microglia, fragile X
Ultimo aggiornamento: 20/05/2024