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in some people with autism, researchers have identified 81 proteins that may be linked to the disorder, according to unpublished results presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.
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.
Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.
Genetic screening of children with autism is critical to designing more effective interventions and treatment, says a pediatrician.
Family support groups may be the best messengers to convey the urgent need for brain tissue in autism research, say scientists struggling with inadequate resources.
A mysterious cluster of sudden deaths among young people who had a genetic syndrome is drawing attention to the high rate of unexplained deaths in individuals with autism and epilepsy.
A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.