| A synaptic trek to autism. | |
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MedLine Citation:
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PMID: 19545994 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autism spectrum disorders (ASD) are diagnosed on the basis of three behavioral features namely deficits in social communication, absence or delay in language, and stereotypy. The susceptibility genes to ASD remain largely unknown, but two major pathways are emerging. Mutations in TSC1/TSC2, NF1, or PTEN activate the mTOR/PI3K pathway and lead to syndromic ASD with tuberous sclerosis, neurofibromatosis, or macrocephaly. Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to mental retardation, typical autism, or Asperger syndrome. The mTOR/PI3K pathway is associated with abnormal cellular/synaptic growth rate, whereas the NRXN-NLGN-SHANK pathway is associated with synaptogenesis and imbalance between excitatory and inhibitory currents. Taken together, these data strongly suggest that abnormal synaptic homeostasis represent a risk factor to ASD. |
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Authors:
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Thomas Bourgeron |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2009-06-21 |
Journal Detail:
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Title: Current opinion in neurobiology Volume: 19 ISSN: 1873-6882 ISO Abbreviation: Curr. Opin. Neurobiol. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-07-27 Completed Date: 2009-10-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111376 Medline TA: Curr Opin Neurobiol Country: England |
Other Details:
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Languages: eng Pagination: 231-4 Citation Subset: IM |
Affiliation:
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Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75015 Paris, France. thomasb@pasteur.fr |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Autistic Disorder / genetics*, physiopathology* Brain / growth & development, physiopathology Humans Neural Inhibition / genetics, physiology Neural Pathways / growth & development, physiopathology Neurons / physiology Synapses / genetics*, physiology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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