There is mounting evidence showing that the structural and molecular organization of synaptic connections is affected both in human patients and in animal models of neurological and psychiatric diseases. As a consequence of these experimental observations, it has been introduced the concept of synaptopathies, a notion describing brain disorders of synaptic function and plasticity. A close correlation between neurological diseases and synaptic abnormalities is especially relevant for those syndromes including also mental retardation in their symptomatology, such as Rett syndrome (RS). RS (MIM312750) is an X-linked dominant neurological disorder that is caused in the majority of cases by mutations in methyl-CpG-binding protein 2 (MeCP2). We will discuss recent data characterizing synaptic alterations in animal models of RS and their regulation by environmental and molecular factors.
37th Congress of IUPS (Birmingham, UK) (2013) Proc 37th IUPS, SA217
Research Symposium: Synaptic alterations in animal models of Rett syndrome
T. Pizzorusso1,2, E. M. Boggio2,3, G. Della Sala1, M. Giustetto3, G. Lonetti2, E. Putignano2
1. NEUROFARBA, Universty of Florence, Pisa, Italy. 2. Inst Neuroscience, CNR, Pisa, Italy. 3. Neuroscience, University of Turin, Turin, Italy.
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Where applicable, experiments conform with Society ethical requirements.