Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.
Mutations in a protein called GRIP1, important for the function of synapses — the junctions between neurons — may contribute to social deficits in autism, researchers reported 22 March in the Proceedings of the National Academy of Sciences.
Researchers have created a mouse carrying a deletion in SHANK3, an autism candidate gene, they reported yesterday in Nature. This is the second model of SHANK3 mutations but shows markedly more behavioral and brain defects compared with the first.
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.
The First International Phelan-McDermid Syndrome Symposium, held last week in New York City, brought together scientists and patient advocates to share insights — including a surprising realization about mice missing the SHANK3 gene.
Researchers have identified nearly 1,500 proteins present in the postsynaptic density — a complex collection of proteins that enables quick and flexible signaling across the brain. The results were published 14 January in Nature Neuroscience.
The ‘intense world theory’ says autism stems from hyper-sensitive reactions to the world, allowing the individual to zoom in on tiny details, but ignore the bigger picture.
Scientists have created mice that carry mutations in SHANK3, one of the strongest candidate genes for autism. The animals have behavioral and neurobiological features reminiscent of autism, researchers reported 17 December in Molecular Autism.
Scientists have debated the relationship between autism and schizophrenia for decades. A review published last month suggests they are two sides of the same neurobiological coin.