Gene mutation discovered that causes language impairment, ADHD and myasthenia

 ADHD in the News 2022-09-22

Two studies have revealed that certain disorders of the CAPRIN1 gene have significant consequences for people. First, the research team showed that insufficient production of the protein CAPRIN1 in the brain can lead to developmental differences, including autism spectrum disorders, attention deficit hyperactivity disorder (ADHD), and language disorders. Furthermore, the scientists identified a specific mutation in the CAPRIN1 gene (CAPRIN1P512L) that leads to an abnormal accumulation of proteins, causing unsteady gait and muscle weakness (myasthenia). The two studies have been published in the journals Brain and Cellular and Molecular Life Sciences.