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.
 

Researchers have optimized the production from stem cells of large numbers of a subtype of neurons involved in cognitive function. The technique, published 20 August in Translational Psychiatry, could generate enough neurons for large-scale screening of drugs.

Researchers have modified optogenetics — a technique that activates neurons in mouse brains with beams of light — to toggle a gene on or off. They reported the advance 22 August 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.

Researchers can use light to activate certain proteins that receive signals at the junctions between neurons and that are key targets for fragile X syndrome therapies, according to a study published in the April issue of Nature Neuroscience.

Researchers have made neurons from the skin cells of mice that model Rett syndrome, according to a study published in the December issue Molecular Psychiatry.

Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.

Mouse studies of a promising treatment for Rett syndrome, already in clinical trials, offer a note of caution about the drug’s potential. Preliminary findings from the research, presented Sunday at the Society for Neuroscience annual meeting in New Orleans, show why mouse work remains important even after clinical trials are underway.

A compound called baclofen restores the balance between different types of brain signals and alleviates autism-like behaviors in mice, according to a study published 17 July in Translational Psychiatry. A similar drug called arbaclofen is in clinical trials as a treatment for autism and fragile X syndrome.

Compounds that target the receptor for the chemical messenger serotonin could help treat fragile X syndrome, according to a study published 17 July in Biological Psychiatry.