France

Neuroscience, neurology and psychiatry (NEURO) 2006 project�ANR-MeCP2synapse -Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives�Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal.�The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT.�Deficits in dendritic … Read more

Promising markers for the first early detection of Rett syndrome

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Reference: Abstract: Rett syndrome (RTT) is a genetic disease that affects the little girl from her 6th month, causing disorders of the nervous system.ﾠIf for the moment there is no cure for the disease, early detection is important and can limit neurological damage related symptoms faster.ﾠResearchers at the Institute of Biomolecules Max Mousseron (1) (IBMM … Read more

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectﾠRett therapy -Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

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Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls.ﾠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ﾠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ﾠWe have shown that the four most common MECP2 … Read more

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

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Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

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