title: [Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications].
abstract: BACKGROUND
  The social, language, and behavioural problems that occur with autism suggest that this syndrome affects a functionally diverse and widely distributed set of neural systems.
  
  
  OBJECTIVE
  To review the molecular pathways involved in synaptic growth, development, and stability of human synapses. We also examine the genes implicated in synaptogenesis which have been associated with autism. In particular, we highlight the role of these genes in synaptic cell adhesion, organization of presynaptic and postsynaptic specializations, growth signaling pathways, and endosomal function.
  
  
  METHODS
  Proper brain function requires stringent balance of excitatory and inhibitory synapse formation during neural circuit assembly. Mutation of genes that normally sculpt and maintain this balance results in severe dysfunction, causing neurodevelopmental disorders including autism, epilepsy, Angelman syndrome, fragile X syndrome, and Rett syndrome. Such mutations may result in defective architectural structuring of synaptic connections, molecular assembly of synapses and/or functional synaptogenesis.
  
  
  CONCLUSIONS
  Increased knowledge of abnormal mechanisms of human synaptogenesis may lead to define different etio-pathogenic models of autism and to understand how far abnormal cell/synaptic growth and synaptic function could be reversed.
authors.affiliation: Hospital Universitario Marques de Valdecilla. Residencia Cantabria, Santander, Spain. juangarcia@humv.es
authors.forename: Juan José
authors.initials: JJ
authors.lastname: García-Peñas
authors.forename: Jana
authors.initials: J
authors.lastname: Domínguez-Carral
authors.forename: Elena
authors.initials: E
authors.lastname: Pereira-Bezanilla
mesh_terms: D000818:Animals; D001323:Autoantibodies / Q000276:immunology; D020274:Autoimmune Diseases of the Nervous System / Q000188:drug therapy / Q000276:immunology; D001921:Brain / Q000196:embryology / Q000648:ultrastructure; D002448:Cell Adhesion; D002659:Child Development Disorders, Pervasive / Q000145:classification / Q000188:drug therapy / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*; D002675:Child, Preschool; D004195:Disease Models, Animal; D005600:Fragile X Syndrome / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D051379:Mice; D018345:Mice, Knockout; D009415:Nerve Net / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000276:immunology / Q000502:physiology; D055495:Neurogenesis / Q000235:genetics / Q000502:physiology*; D009473:Neuronal Plasticity / Q000235:genetics / Q000502:physiology; D011619:Psychotropic Drugs / Q000627:therapeutic use; D013569:Synapses / Q000187:drug effects / Q000502:physiology* / Q000648:ultrastructure
chemical_list: D001323:Autoantibodies; D007166:Immunosuppressive Agents; D009419:Nerve Tissue Proteins; D011619:Psychotropic Drugs