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Abstract #2270

Metabolic & Morphological Characterization of the Mecp2-308 Truncated Mouse Model of Rett Syndrome: Effects of a Treatment Activating Rho GTPases

Rossella Canese1, Bianca De Filippis1, Carla Fiorentini2, Alessia Fabbri2, Paola Porcari1, Laura Ricceri1, Giovanni Laviola1

1Cell Biology & Neurosciences Dept., Istituto Superiore di Sanit, Rome, RM, Italy; 2Therapeutic Research & Medicine Evaluation Dept., Istituto Superiore di Sanit, Rome, RM, Italy

Rett syndrome (RTT) is a pervasive developmental disorder caused by a mutations in the gene encoding methyl−CpG−binding protein 2 (MeCP2). Here we investigated the effects of Cytotoxic Necrotizing Factor 1 (CNF1, a bacterial toxin that enhances neurotransmission and synaptic plasticity) administration to contrast the RTT phenotype in MeCP2-308 truncated mice, by in vivo 1H MRI and MRS. Our data indicate that CNF1 treatment affects metabolism of taurine and inositol. In the MeCP2-308 phenotype these effects lead to a normalization towards wt-like values. MRI analysis revealed also a significant reduction of the corpus callosum, in agreement with MRI results in patient.