Traduction: G.M.
Prenat Diagn. 2016 Oct 15. doi: 10.1002/pd.4942.
Autism genetics - an overview
Author information
- 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
- 2Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
- 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. schaaf@bcm.edu.
- 4Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA. schaaf@bcm.edu
Abstract
Le trouble du spectre de l'autisme (TSA), un groupe hautement héritable, cliniquement diversifié des troubles neurodéveloppementaux. Son hétérogénéité génétique est remarquable, avec plus de 800 gènes de prédisposition au TSA identifiés à ce jour. Ils
sont impliqués dans divers processus biologiques, y compris leremodelage
de la chromatine et la régulation de la transcription des gènes, la
croissance et la prolifération cellulaire,l'ubiquitination, et les
processus neuronaux spécifiques , telles que l'organisation synaptique et
l'activité, la morphologie dendritique et l'axonogenesis. Cette revue vise à discuter des génétique de l'autisme de base, des moyens
d'enquêter sur les TSA dans des systèmes modèles, de mettre en évidence
certains gènes clés et leurs voies moléculaires, et d'introduire de
nouvelles théories de la pathogenè du TSA, tels que le déséquilibre des
excitateurs et inhibiteurs de l'activité cérébrale, de l'hétérozygotie
oligogénique, et la modèle de protection féminin.
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model.
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model.
This article is protected by copyright. All rights reserved.
- PMID: 27743394
- DOI: 10.1002/pd.4942
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