A small fragment of RNA may regulate the expression of RORA, a gene implicated in many autism-related pathways, according to a study published 6 February in Scientific Reports.

A new stem-cell model of Phelan-McDermid syndrome points to a possible treatment for the rare autism-related disorder, according to a study published in Nature.

Geneticists react to discoveries and identify next steps for one of autism’s most promising candidate genes.

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.
 

Rodent models that recapitulate the core features of autism often have additional traits, leading us to ask whether these traits are integral to autism, says Elisa Hill-Yardin.

Two new strains of mice carrying different mutations in the SHANK2 gene show similar autism-like behaviors but opposing effects on brain signaling, according to two independent studies published 14 June in Nature.

Mice lacking the autism-associated gene SHANK2 show autism-like behaviors similar to those seen in mice lacking SHANK3, another member of the same gene family. But SHANK2 and SHANK3 mice have distinct alterations at neuronal junctions, according to a report published 29 April in Nature.

By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.

Mice lacking the autism risk gene SHANK2 show social deficits and are extremely hyperactive, according to unpublished research presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.