Rat study suggests prenatal microbial exposure influences neurodevelopmental outcomes.
Researchers have identified 107 mutations in the RNA helicase DDX3X that cause cortical malformations in the developing brain. As the DDX3X gene is carried by the X chromosome, the associated developmental problems are more likely to occur in females. In severe cases, the functional changes in DDX3X resulted in a smaller or missing corpus callosum. Almost all of the mutations occurred de novo, meaning they happened during early development rather than being inherited from a parent. Researchers say the malfunction can now be considered to be a development disability syndrome.
Genetic mutations, which occur in both the brain and gut, could be a main cause of autism. Using mouse models of ASD, researchers discovered the neuroligin-3 R451C mutation affects neural communication in the brain and causes dysfunction in the gut. The findings strengthen the gut-brain hypothesis of autism.
A new mouse model shows that when more of a specific molecule moves to different parts of a neuron, it can lead to behaviors that resemble aspects of human ASD.