From the genetic architecture to synaptic plasticity in autism spectrum disorder.
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.
Human Genetics and Cognitive Functions Unit, Institut Pasteur.|CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, 25 rue du Docteur Roux, 75015 Paris, France.|Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, 5 rue Thomas Mann, 75013 Paris, France.|Fondation FondaMental, Hôpital Albert Chenevier, 40 rue de Mesly, 94000 Créteil, France.
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D001921:Brain / Q000473:pathology / Q000502:physiology*; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009473:Neuronal Plasticity / Q000235:genetics / Q000502:physiology*; D013569:Synapses / Q000235:genetics* / Q000378:metabolism / Q000473:pathology