Researchers have identified a compound that shows promise as a treatment for Angelman syndrome, a developmental disorder related to autism. The unpublished results were presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

Looking at flies that express elevated levels of UBE3A, a gene that is duplicated in some people with autism, researchers have identified 81 proteins that may be linked to the disorder, according to unpublished results presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

Matthew Anderson talks to SFARI.org about what mice carrying deletions and duplications of UBE3A could teach us about autism.

Two new genetic mouse models that debuted this week show that having too many or too few copies of certain genetic regions leads to an array of symptoms reminiscent of autism.

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.

Deletions or duplications of the UBE3A gene lead to both Angelman syndrome and some cases of autism, respectively. Studying the effects of altered gene dosage in this region will provide insights into brain defects and suggest targets for therapies for both disorders, says expert Benjamin Philpot.

A new mouse model of 15q duplication syndrome, a genetic disorder associated with autism, falls short of recapitulating the symptoms of the syndrome. But it nonetheless points to a cluster of well-known risk genes as the most likely culprits.

Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.

One of the first large-scale, ongoing studies documenting the symptoms of Angelman syndrome — a neurological disorder with features similar to autism — is calling into question some of the so-called characteristic symptoms of the syndrome.

UBE3A, a protein mutated in Angelman syndrome and autism, regulates communication between neurons in the brain, according to a study published 29 October in Cell.