News of World Medicine

Scientists have found eight mutations associated with autism in one gene

Scientists of the University of Southern California have analyzed the data of 4,890 people with autism spectrum disorders (ASD). The experts have revealed eight mutations in TRIO gene, which play an important role in the development of autism. These mutations cause a chain reaction. They break the connection between the brain cells as well as the ability to store and process information.

The mutations found by the researchers were located in GEF1/DH1 domain encoding a specific region of TRIO protein. This protein activates Rac1 protein, that “paves the way” for the connections between neurons. The mutations interfered with TRIO to activate Rac1, reports.

Because of these mutations, the "way" was destroyed, and the brain’s connections became weak. But TRIO activity was increased in one carrier of mutations with severe intellectual disorders. This person had a lot of connections in the brain. According to the scientists, both weak and too close connections in the brain increase the risk of developing autism.