From the genetic architecture to synaptic plasticity in autism spectrum disorder

被引：671

作者：

Bourgeron, Thomas ^{[1
,2
,3
,4
]}

机构：

[1] Inst Pasteur, Human Genet & Cognit Funct Unit, F-75015 Paris, France

[2] Inst Pasteur, CNRS UMR Genes Synapses & Cognit 3571, F-75015 Paris, France

[3] Univ Paris Diderot, Sorbonne Paris Cite, Human Genet & Cognit Funct, F-75013 Paris, France

[4] Hop Albert Chenevier, Fdn FondaMental, F-94000 Creteil, France

来源：

NATURE REVIEWS NEUROSCIENCE | 2015年 / 16卷 / 09期

关键词：

DE-NOVO MUTATIONS; FRAGILE-X-SYNDROME; NEUROTROPHIC FACTOR; GENERAL-POPULATION; NEURONAL-ACTIVITY; BRAIN; MECP2; METAPLASTICITY; SHANK3; SLEEP;

D O I：

10.1038/nrn3992

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been linked to these disorders encode synaptic scaffolding proteins, receptors, cell adhesion molecules or proteins that are involved in chromatin remodelling, transcription, protein synthesis or degradation, or actin cytoskeleton dynamics. Changes in any of these proteins can increase or decrease synaptic strength or number and, ultimately, neuronal connectivity in the brain. In addition, when deleterious mutations occur, inefficient genetic buffering and impaired synaptic homeostasis may increase an individual's risk for ASD.

引用

页码：551 / 563

页数：13

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