Autism spectrum disorder linked to mutations in some mitochondrial DNA
Children diagnosed with autism spectrum disorder (ASD) have greater numbers of harmful mutations in their mitochondrial DNA than family members, researchers report. Ref. Source 6n.
Scientists discover clues to altered brain wiring in autism
Autism is an agonizing puzzle, a complex mixture of genetic and environmental factors. One piece of this puzzle that has emerged in recent years is a biochemical cascade called the mTOR pathway that regulates growth in the developing brain. A mutation in one of the genes that controls this pathway, PTEN (Also known as phosphatase and tensin homolog), can cause a particular form of autism called macrocephaly/autism syndrome. Ref. Source 6p.
Shared epigenetic changes underlie different types of autism
Those with both rare and common types of autism spectrum disorder share a similar set of epigenetic modifications in the brain, according to a study. More than 68% of individuals with different types of autism spectrum disorder show evidence of the same pattern of a chemical modification of the protein scaffold around which DNA wraps. The findings suggest that a single global epigenetic pattern affecting shared molecular pathways in the brain could underlie diverse manifestations of this psychiatric disease. Ref. Source 3w.
Autism breakthrough: One protein's sweeping influence on development of autism revealed
A drop in one protein is enough to cause autism, according to the results of a new study. Scientists were able to trigger autistic-like behavior in mice that were engineered to have lower levels of the nSR100 protein, which had previously been found to be reduced in the brains of patients with ASD. Ref. Source 2j.
Prenatal infection may alter brain development via epigenetic changes
Maternal infection during pregnancy increases the risk for psychiatric disorders in the child, but the path between the two is something of a mystery. Scientists have now used a mouse model to show that activation of the mother's immune system may cause long-term alterations in the programming of the offspring's genome, known as epigenetic modifications, which lead to behavioral abnormalities in adulthood. Ref. Source 1e.
Autism researchers discover genetic 'Rosetta Stone'
Distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on whether the respective mutations boost the protein's function or sabotage it, according to a new study. Ref. Source 3q.
Autism may begin early in brain development
An overload of neural connections typically observed in autistic brains begins early in mammalian development, when key neurons in the brain region known as the cerebral cortex begin to form their first circuits, new research shows. By pinpointing where and when autism-related neural defects first emerge in mice, the study results could lead to a stronger understanding of autism in humans -- including possible early intervention strategies. Ref. Source 5d.
Genes, ozone, and autism. Exposure to ozone in the environment puts individuals with high levels of genetic variation at an even higher risk for developing autism than would be expected just by adding the two risk factors together, a new analysis shows. The study is the first to look at the combined effects of genome-wide genetic change and environmental risk factors for autism. Source 7c.