Researchers in Japan have completed the first step in creating transgenic monkey models of autism, according to a poster presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.
A new mouse model provides the first molecular link between the known autism risk gene PTEN and the mitochondrial dysfunction sometimes seen in the disorder. Mice with half the normal amount of PTEN protein in their brains have social deficits reminiscent of autism and faulty mitochondria, according to a study published 10 August in PLoS One.
Abnormalities in the connections between language-related brain regions are similar in people with autism and those with tuberous sclerosis, a genetic disorder characterized by benign tumors throughout the brain and body, according to a paper published 1 June in Cerebral Cortex.
Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.
The ten notable papers picked by SFARI staff describe superb contributions that span the breadth of autism research from molecules to behavior. But we recognize that ten other articles might have been selected without loss of enthusiasm or excitement.
Some forms of autism are caused by too many proteins at the synapse, the junction between neurons, whereas other forms result from too few, according to a study published 23 November in Nature.
The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.
Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.
A study of mice with tuberous sclerosis — a single-gene disorder that is related to autism — suggests that most forms of autism share a common feature: an imbalance of proteins at the synapse, the junction between neurons. The work was presented Monday at the Society for Neuroscience annual meeting in San Diego.