Spanish scientists uncover link between DNA and autism risk

In a significant research development from Spain, an international team of scientists, led by biochemist Raúl Méndez and biophysicist Xavier Salvatella, has made strides in understanding autism spectrum disorders. They proposed that a missing segment of a crucial protein, necessary for brain development, may be influencing a large percentage of autism cases. Their study, recently published in the journal Nature, focuses on 24 specific DNA letters that are believed to play a significant role in the disorder. Previously, in 2018, some researchers indicated that individuals with autism lack this segment, correlating it with the deregulation of approximately 200 related genes. This latest research suggests that environmental factors, like a high-fat diet or viral infections, might trigger the loss of this protein segment during embryonic development. The researchers aim to explore whether administering the eight amino acids that are encoded by the 24 letter sequence could reverse the effects of autism. They intend to implement tests in genetically modified mice that mimic the condition. Their findings reveal that when these amino acids are absent, neuronal function deteriorates and autism symptoms can develop. However, the researchers caution that their hypothesis remains unproven, and further investigation is essential. They are also examining the role of the CPEB4 protein, which typically forms aggregates, or 'liquid droplets,' in neurons. Efforts are underway to identify ways to restore these droplets to a functional state, possibly influencing treatment avenues in the future. The research is part of the doctoral theses of two young researchers, Carla García Cabau and Anna Bartomeu, emphasizing the collaboration between experienced scientists and emerging talent in this critical field.