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The first autism disease genes
Date:9/1/2008

ional Study; coordinated by C. Gillberg & M. Leboyer) a large number of multiply affected families were identified, and several mutations of genes encoding proteins implicated in the process of synapse formation (synaptogenesis) have been described.

Autism and synapse formation (synaptogenesis)

In 2003 two new highly conserved members of the human neuroligin family HNL4, located at Xp22.3 were characterized (Jamain et al, 2003). A crucial factor in synapse formation, neuroligins are cell adhesion molecules that can trigger the formation of presynaptic structures in non-neuronal cells. The rare mutations of the neuroligins (1%) are associated with autism spectrum conditions. Another step forward in this compelling neurobiological story was the identification of a de novo frame-shift mutation in the X-linked HNL4 gene in two brothers, one with autism and the other with Asperger Syndrome. Since autism and Asperger Syndrome are overly represented in males, mutations in these genes may influence the process of synaptogenesis, and consequently may predispose males to Autism Spectrum Disorders.

In 2007, mutations of another gene encoding SHANK3 were reported (Durand et al, 2007). This gene regulates the structural organization of dendritic spines in neurons and is a binding partner of neuroligins, previously found to be mutated in autism and Asperger Syndrome. Surprisingly, a mutation of a single copy of SHANK3 at chromosome 22q13 is sufficient to induce language impairment, learning disabilities and/or social communication disorders associated with Autism Spectrum Disorders. Frequency of SHANK3 variants is very low even among autism patients and nearly absent in the general population. These results have thus shed light on one synaptic pathway sensitive to gene dosage and associated to Autism Spectrum Disorders.

In a large international study with a sample of 1.168 multiplex families, another exciting discovery led to the detection
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Contact: Sonja Mak
s.mak@update.europe.at
43-140-557-340
European College of Neuropsychopharmacology
Source:Eurekalert

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