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Understanding the molecular mechanisms involved in the fragile X syndrome

Obiettivo

The fragile X mental retardation syndrome is a genetic disease that results from the absence or a defect in the FMRP protein and is the most frequent cause of inherited mental retardation (1 in 4000 males and 1 in 7000 females). FMRP is found in the nucleu s and cell body of neurons as well as in their dendrites and synapses. Recent data suggests that the protein has a role in the regulation of translation, via a small non translated RNA called BC1. FMRP is part of a large mRNP complex and binds to proteins and RNA. Previous studies performed by the host group shown that FMRP itself is translated at the synapses. Further, its absence in knock-out mice significantly alters the translation efficiency of some mRNAs at the synapses. Since brain synapses are impli cated in learning, memory and cognition, the lack of translational regulation at the synapses may well be the cause for mental retardation in the fragile X syndrome, and it is most important to understand the function of FMRP at the synapses. In this proje ct, we will purify the FMRP complex from synaptosomal preparations and characterise the proteins and RNAs bound to the complex. The proposed project is focused to the understand the function of FMRP at the synapses through the identification of RNA and pro tein species to which FMRP binds within neuronal cells. This project will give an important contribution to the understanding of the Fragile X Syndrome. In addition, the data will yield interesting insights into the translational regulation at the synapses , thereby advancing our understanding of gene expression in the synapses.

Campo scientifico (EuroSciVoc)

Parole chiave

Argomento(i)

Invito a presentare proposte

FP6-2002-MOBILITY-11
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Meccanismo di finanziamento

ERG - Marie Curie actions-European Re-integration Grants

Coordinatore

UNIVERSITA DEGLI STUDI DI ROMA TOR VERGATA
Contributo UE
Nessun dato
Indirizzo
Via Orazio Raimondo 18
ROMA
Italia
Costo totale
Nessun dato