title: Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes.
abstract: A number of mutated genes that code for proteins concerned with brain synapse function and circuit formation have been identified in patients affected by intellectual disability (ID) syndromes over the past 15 years. These genes are involved in synapse formation and plasticity, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton, the synthesis and degradation of specific synapse proteins, and the control of correct balance between excitatory and inhibitory synapses. In most of the cases, even mild alterations in synapse morphology, function, and balance give rise to mild or severe IDs. These studies provided a rationale for the development of pharmacological agents that are able to counteract functional synaptic anomalies and potentially improve the symptoms of some of these conditions. This review summarizes recent findings on the functions of some of the genes responsible for ID syndromes and some of the new potential pharmacological treatments for these diseases.
authors.affiliation: CNR Institute of Neuroscience, Department of Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Verpelli
authors.forename: Ivan
authors.initials: I
authors.lastname: Galimberti
authors.forename: Baltazar
authors.initials: B
authors.lastname: Gomez-Mancilla
authors.forename: Carlo
authors.initials: C
authors.lastname: Sala
mesh_terms: D000818:Animals; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D009474:Neurons / Q000187:drug effects / Q000378:metabolism; D013569:Synapses / Q000187:drug effects / Q000235:genetics / Q000378:metabolism*; D009435:Synaptic Transmission / Q000187:drug effects / Q000235:genetics; D013577:Syndrome
keywords: autism; intellectual disability; synapses