title: Mutations of the synapse genes and intellectual disability syndromes.
abstract: Intellectual disability syndromes have been found associated to numerous mutated genes that code for proteins functionally involved in synapse formation, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton or the synthesis and degradation of specific synapse proteins. These studies have strongly demonstrated that even mild alterations in synapse morphology and function give rise to mild or severe alteration in intellectual abilities. Interestingly, pharmacological agents that are able to counteract these morphological and functional synaptic anomalies can also improve the symptoms of some of these conditions. This review is summarizing recent discoveries on the functions of some of the genes responsible for intellectual disability syndromes connected with synapse dysfunctions.
authors.affiliation: CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Verpelli
authors.affiliation: CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Montani
authors.affiliation: CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Vicidomini
authors.affiliation: CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy.
authors.forename: Christopher
authors.initials: C
authors.lastname: Heise
authors.affiliation: CNR Institute of Neuroscience and Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Vanvitelli 32, 20129 Milano, Italy; Neuromuscular Diseases and Neuroimmunology, Neurological Institute Foundation Carlo Besta, Via Celoria 11, 20133 Milan, Italy. Electronic address: c.sala@in.cnr.it.
authors.forename: Carlo
authors.initials: C
authors.lastname: Sala
mesh_terms: D000818:Animals; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D013569:Synapses / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
keywords: Autism; Brain synapses; Dendritic spine; Intellectual disability