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.
An atypical response to sensory stimuli, such as smells and sounds, may be a core feature of autism, suggest two studies published in the past few months.
RNA editing, which creates multiple forms of a protein, is common among proteins involved in neuronal signaling, and may be abnormal in people with autism, according to a study published 7 August in Molecular Psychiatry.
Emerging technologies and software may help assess the subtle behaviors, such as gaze or social gestures, that go awry in children with autism, researchers said at the Engineering and Autism conference earlier this month.
A comprehensive analysis of large deletions and duplications of DNA bolsters the idea that some cases of developmental delay and autism result from a combination of two damaging hits to the genome, according to research published 12 September in the New England Journal of Medicine.
Sophisticated eye-tracking tools and other technologies are making it easier to record and analyze social interactions, and may help researchers study social deficits in children with autism. Researchers debuted some of these tools 28 September at the Engineering and Autism conference in Los Angeles.
The nonprofit Allen Institute for Brain Science in Seattle plans to make neurons from stem cells derived from people with a number of different disorders. The resource, described 25 September at a conference in New York, will be available to all scientists.
A new study finds that 48 of every 10,000 children in Israel have autism. This rate, published 27 July in the Journal of Autism and Developmental Disorders, is higher than previous estimates for Israel, but lower than the reported U.S. prevalence.
Deleting an enzyme that regulates protein synthesis reverses some of the molecular and behavioral deficits in a mouse model of fragile X syndrome, according to research published 2 October in Neuron.
Deleting CYFIP1, a gene within a region linked to Angelman syndrome and autism, in mice leads to symptoms reminiscent of fragile X syndrome, according to a study published 10 August in PLoS One.