Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating the connections between neurons.
Spectrum: Autism Research News
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.
Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.
The assumption in some published overviews of autism tends to be that all of the problems relevant to the disorder can be found at synapses, the junctions between neurons. But it’s difficult not to notice the striking number of chromatin-associated genes that have emerged as candidate risk factors over the past few months.
Mutations in two genes linked to autism, neurexin and neuroligin, slow down neuronal signaling, according to research published 2 August in Science. Analyzing the mutations in the nematode Caenorhabditis elegans, the study found that mutations in these genes affect signaling in the opposite direction than is typical.
The autism-associated gene RBFOX1 modifies the sequence of hundreds of genetic messages, a number of which affect the expression of other autism-linked genes, according to a study published 7 July in Human Molecular Genetics.
Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.