Genes involved in neuropsychiatric disorders tend to be required for the formation of primary cilia — small tentacles on the cell surface that sense the external environment — according to a study published 3 October in PLoS One.
An autism-linked protein called CASPR2 promotes the development of dendrites, the bushy structures atop neurons that receive signals from other neurons, according to a study published 30 October in Proceedings of the National Academy of Sciences. Lowering CASPR2 levels leads to sparse dendrites and few synapses, the junctions between neurons.
Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia.
Mice missing the autism-linked gene CNTNAP2 have broad defects in their oxytocin system, according to research presented Tuesday at the Society for Neuroscience annual meeting in New Orleans. Treatment with oxytocin alleviates social deficits in these mice.
Two well-known mouse models of autism show abnormal reactions to an eye-blinking test that relies on the cerebellum, a brain region that helps integrate sensory information and plan movements. The unpublished results were presented in a poster Monday at the 2012 Society for Neuroscience annual meeting in New Orleans.
In a video interview, Simon Fisher discusses what language genes such as FOXP2 can reveal about the nature of autism.
Autism-linked mutations in CNTNAP2 prevent proper localization and folding of the protein and activate a cellular stress response, according to a study published 23 August in Human Molecular Genetics.
Individuals with either of two rare forms of epilepsy have duplications or deletions that encompass genes implicated in autism and language impairment, according to a study published 27 June in Epilepsia.
SAGE Labs has announced a new partnership with the autism science and advocacy organization Autism Speaks to fund the creation of three new rat models of autism.