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Autisme, génétique et anomalies de la fonction synaptique
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- Author(s): Perche, O.1,2; Laumonnier, F.3; Baala, L.1,2; Ardourel, M.-Y.4; Menuet, A.1; Robin, V.1; Mortaud, S.1; Montécot-dubourg, C.4; Richard, O.4; Pichon, J.4; Briault, S.1,2
- Source:
Pathologie Biologie. Oct2010, Vol. 58 Issue 5, p381-386. 6p.- Subject Terms:
- Source:
- Additional Information
- Alternate Title: Autism, genetics and synaptic function alterations
- Abstract: Abstract: Autism is a neurodevelopmental disorder characterized by a deficit of language and communication both associated with a restricted repertoire of activities and interests. The current prevalence of autistic disorder stricto sensu is estimated at 1/500 whereas autism spectrum disorders (ASD) increases up to 1/150 to 1/200. Mental deficiency (MD) and epilepsy are present in numerous autistic individuals. Consequently, autism is as a major public health issue. Autism was first considered as a non biological disease; however various rational approaches for analysing epidemiological data suggested the possibility of the influence of genetic factors. In 2003, this hypothesis was clearly illustrated by the characterization of genetic mutations transmitted through a mendelian manner. Subsequently, the glutamate synapse appeared as a preferential causal target in autism because the identified genes encoded proteins present in this structure. Strikingly, the findings that an identical genetic dysfunction of the synapse might also explain some MD suggested the possibility of a genetic comorbidity between these neurodevelopmental conditions. To date, various identified genes are considered indifferently as “autism” or “MD” genes. The characterization of mutations in the NLGN4X gene in patients with Asperger syndrome, autism without MD, or MD without autism, was the first example. It appears that a genetic continuum between ASD on one hand, and between autism and MD on the other hand, is present. Consequently, it is likely that genes already involved in MD will be found mutated in autistic patients and will represent future target for finding new factors in autism. [ABSTRACT FROM AUTHOR]
- Abstract: Résumé: L’autisme, trouble du développement neuropsychologique de l’enfant, se caractérise par un déficit de langage et de la communication associé à un répertoire restreint d’activités et d’intérêts. La déficience mentale (DM) et l’épilepsie sont également présentes chez une grande proportion de sujets. La prévalence admise de l’autisme stricte est de 1/500, alors celle de l’autisme et des troubles apparentés est de 1/150 à 1/200. Longtemps considéré comme une maladie non organique, les approches rationnelles d’analyses des données épidémiologiques ont permis de poser l’hypothèse de l’implication de facteurs génétiques. C’est à partir de 2003 que cette hypothèse a été confirmée par la mise en évidence de mutations géniques se transmettant selon un mode mendélien. D’emblée, la synapse glutamatergique est apparue comme une cible causale privilégiée, les gènes identifiés codant des protéines impliquées dans cette structure. Le fait qu’un même dysfonctionnement de cette structure explique un certain nombre de cas de DM d’origine génétique a incité plusieurs équipes à envisager l’existence de causes génétiques communes entre DM et autisme. À ce jour, plusieurs gènes sont considérés indifféremment comme des gènes « d’autisme » ou de « DM ». À cet égard, le gène NLGN4X semble exemplaire, des mutations de ce gène ayant été trouvées chez des sujets présentant un syndrome d’Asperger, chez des sujets autistes non retardés, chez des sujets autistes retardés et chez des sujets retardés non autistes. Il existe donc un continuum génétique entre autisme et troubles apparentés, d’une part, et DM d’autre part.
- Abstract:
Copyright of Pathologie Biologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) - Abstract:
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