The brains of individuals with autism express low levels of genes involved in metabolism and protein assembly, according to a postmortem study published 12 September in PLoS One.
Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.
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.
Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.
A genetic defect in the synthesis of carnitine, a molecule that is essential for proper mitochondrial function, might slightly increase risk for autism in some children, according to research published 8 May in the Proceedings of the National Academy of Sciences.
DISC1, an autism-associated protein, can form large aggregates that deplete the amount of functional DISC1 in cells, according to a study published 14 February in Human Molecular Genetics.
Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.
A new study examining trends in autism research over the past 40 years found that the largest areas of growth have been in immune function, oxidative stress, toxin exposure, genetics and neuroimaging, while research on theory of mind and neuropathology has slowed.
The brain abnormalities characteristic of tuberous sclerosis may begin early in development and involve malfunctioning of neuronal precursors, according to studies of two different mouse models of the disorder published in October.
Screening for metabolic disorders in children with autism is not cost-effective, according to a study published 7 July in PLoS One. The researchers argue instead for careful individual clinical analysis.