Postmortem brains from adults with autism have lower-than-normal levels of the fragile X mental retardation protein, which is missing in individuals with fragile X syndrome.
Spectrum: Autism Research News
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.
Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.
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.
A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.
Genetic analysis of one Belgian family with a history of autism has pinpointed a piece of DNA on chromosome 16, within a segment thought to be missing in about one percent of all cases of autism. The unpublished data was presented on Saturday at the World Congress of Psychiatric Genetics in San Diego.
Mice carrying an autism-associated mutation show impaired social interactions and dramatic changes in brain size when their immune systems are activated, according to research presented yesterday at a poster session at the Society for Neuroscience meeting in Chicago.
Interested more in ideas than in dominating a crowded field, Michael Wigler decided to apply his expertise in cancer genetics to studying poorly understood features of autism.