MeCP2, the gene associated with Rett syndrome, has widely variable effects on mouse brains depending on the mutation it carries, according to unpublished results presented Tuesday at the 2013 Society for Neuroscience annual meeting in San Diego.

Rett syndrome affects many cellular pathways, but correcting just one of these with drugs approved for other purposes may be enough to alleviate symptoms of the disorder. This was the message from two presentations Tuesday at the 2013 Society for Neuroscience annual meeting in San Diego.

Researchers have shown for the first time that glitches in a gene expressed at junctions between neurons can cause gut problems in mice. The unpublished results were presented Tuesday at the 2013 Society for Neuroscience annual meeting in San Diego.

Researchers have created neurons from the skin cells of children with autism, according to an unpublished study presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego. These neurons show several distinct features, including elevated markers of inhibitory signaling.

SHANK3, one of the strongest candidate genes for autism, has the potential to be a molecular entry point into understanding the synaptic, developmental and circuit origins of the disorder.
 

Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published 12 September in Nature.

Newborn mice with an autism-linked mutation in neuroligin-3, which stabilizes junctions between neurons, have abnormal brain chemistry, according to a study published 4 June in Frontiers in Cellular Neuroscience.

Using a little-known brain-imaging technique, a new study shows that children with autism have low levels of gamma-aminobutyric acid (GABA), a chemical that keeps brain signals in check.

The mutation that causes tuberous sclerosis complex, an autism-related disorder, may disable calming signals in the brain, leading to hyperactive neurons, according to a study published 8 May in Neuron.

Following the suspension in early May of two clinical trials of arbaclofen, a candidate drug for autism and fragile X syndrome, parents are appealing to the U.S. government and several pharmaceutical companies to continue testing the drug.