title: Synaptic dysfunction and intellectual disability.
abstract: Intellectual disability (ID) is a common and highly heterogeneous paediatric disorder with a very severe social impact. Intellectual disability can be caused by environmental and/or genetic factors. Although in the last two decades a number of genes have been discovered whose mutations cause mental retardation, we are still far from identifying the impact of these mutations on brain functions. Many of the genes mutated in ID code for several proteins with a variety of functions: chromatin remodelling, pre-/post-synaptic activity, and intracellular trafficking. The prevailing hypothesis suggests that the ID phenotype could emerge from abnormal cellular processing leading to pre- and/or post-synaptic dysfunction. In this chapter, we focus on the role of small GTPases and adhesion molecules, and we discuss the mechanisms through which they lead to synaptic network dysfunction.
authors.affiliation: CNR Institute of Neuroscience, Department of Pharmacology, University of Milan, Via Vanvitelli 32, 20129 Milan, Italy.
authors.forename: Pamela
authors.initials: P
authors.lastname: Valnegri
authors.forename: Carlo
authors.initials: C
authors.lastname: Sala
authors.forename: Maria
authors.initials: M
authors.lastname: Passafaro
mesh_terms: D000818:Animals; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D011485:Protein Binding; D025941:Protein Interaction Mapping; D021381:Protein Transport / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics / Q000378:metabolism; D013569:Synapses / Q000235:genetics / Q000378:metabolism*; D009435:Synaptic Transmission / Q000235:genetics*
chemical_list: D015815:Cell Adhesion Molecules; D009419:Nerve Tissue Proteins; D011956:Receptors, Cell Surface; D020559:Monomeric GTP-Binding Proteins