Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.
Our understanding of human disorders that affect higher cognitive functions has greatly advanced in recent decades, and over 20 genes associated with non-syndromic mental retardation have been identified during the past 15 years. However, proteins encoded by "cognition genes" have such diverse neurodevelopmental functions that delineating specific pathogenetic pathways still poses a tremendous challenge. In this review, we summarize genetic, epigenetic and environmental contributions to neurodevelopmental alterations that either cause or confer vulnerability to autism, a disease primarily affecting social cognition. Taken together, these results begin to provide a unifying view of complex pathogenetic pathways that are likely to lead to autism spectrum disorders through altered neurite morphology, synaptogenesis and cell migration. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).
Persico
Antonio M
AM
Laboratory of Molecular Psychiatry and Neurogenetics, University 'Campus Bio-Medico', Via Longoni 83, I-00155, Rome, Italy; IRCCS 'Fondazione Santa Lucia', Department of Experimental Neurosciences, Via del Fosso di Fiorano 64/65, I-00143, Rome, Italy. Electronic address: a.persico@unicampus.it.
Bourgeron
Thomas
T
Laboratory of Human Genetics and Cognitive Functions, Institut Pasteur, 25 Rue du Docteur Roux 75015, Paris, France; University Paris VII, 2 Place Jussieu 75013, Paris, France.
D000818:Animals; D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D002465:Cell Movement / Q000502:physiology; D004195:Disease Models, Animal; D004777:Environment; D008040:Genetic Linkage; D005824:Genetics, Behavioral; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism
D009419:Nerve Tissue Proteins