Neuroscience Seminar Series:
Thomas Bourgeron, Human Genetics and Cognitive Functions, Institut Pasteur, CNRS URA 2182; University Paris Diderot, Chaire de biologie intégrée de l’autisme créée avec le soutien de la Fondation Bettencourt-Schüller.
‘Genes, synapses and autismS’
The diagnosis of autism spectrum disorders (ASD) is based on impairments in reciprocal social communication, and repetitive behaviours, but beyond this unifying definition lies an extreme degree of clinical and genetic heterogeneity. Our previous studies pointed at one synaptic pathway associated with the condition. Among the causative genes, synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK) are crucial for synapse formation/maintenance as well as correct balance between inhibitory and excitatory synaptic currents. In parallel, we identified genetic mutations that disrupt the serotonin-N-acetylserotonin-melatonin signalling in a subset of patients. This pathway is known to have pleiotropic effects, which include the regulation of sleep-wake cycles and the modulation of synaptic circuits. In this presentation, I will discuss our recent results coming from human genetics and mouse models studies that shed new light on the inheritance of ASD and on the phenotypic consequences of carrying mutations in clock and synaptic related genes. Hopefully, this knowledge should improve the diagnosis, care and integration of patients with ASD.