Human Genetics and Cognitive Functions


  Annual Report

Our group explores the genetic contribution to human cognitive functions by studying the genetic susceptibility to psychiatric conditions such as autism spectrum disorders (ASD) or obsessive-compulsive disorders (OCD). Using a genetic approach, we have characterized several candidate genes (FAM8A1, KIF13A, GRIK2, NLGNs, PCDHX/Y) and identified mutations associated with ASD (NLGN3, NLGN4 and SHANK3). Our main results consist in the identification of a synaptic pathway, sensitive to gene dosage, and associated with ASD.

ASD is diagnosed on the basis of three behaviorally altered domains, namely social deficits, impaired language and communication, stereotyped and repetitive behavior. In the vast majority of the individuals, the origin of the disorder is still unknown. During these last years, our group and others have contributed to a better characterization of the genetic bases of ASD. Several genes are now associated with the condition (Figure), providing a better view of the complex pathways contributing to this condition (anomalies in the number and shape of the synapses, imbalance in excitation/inhibition, increased cell number, high serotonin level).

Based on these results, our project aims now to combine our genetic approach to cell biology and brain imaging, to better characterize, at different integrated levels, the contribution of these genes in the development of language and communication in humans. This knowledge should also shed light on the origin of our ability to communicate, a complex process influenced by genetic/epigenetic factors and the environment.


Figure. Supposed genetic and neurobiological abnormalities contributing to ASD (from Belmonte and Bourgeron, Nature Neuroscience, 2006)


Publications 2006 of the unit on Pasteur's references database

Activity Reports 2006 - Institut Pasteur
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