Nature: New research on autism! Uncover the molecular mechanisms by which genetic mutations modify social behavior in people with autism!

August 9, 2020 // -- In a recent study published in the international journal Nature, scientists from the University of Basel and other institutions have found a new association between genetic changes and social disorders associated with autism, a gene mutation called neuronicin-3 that reduces the role of oxytocin in the body;
Image source: CC0 Public Domain autism accounts for about 1% of the population, characterized by changes in communication patterns, repetitive behavior and social difficulties, and a variety of genetic factors are involved in the development of autism, which researchers have identified With hundreds of genes associated with autism, including those that encode synoptic adhesion molecular neuroconnective protein 3, researchers don't yet know why a large number of genetic changes are associated with autism symptoms, which is one of the big challenges researchers face in developing new autism therapies.
researcher Peter Scheiffele said: 'In this study, we uncovered a link between the neuroconnective protein 3 gene (the gene that increases the risk of autism) and the oxytocin signaling pathpes in mouse model bodies, which regulate their social behavior, especially social relationships, in mammalian organisms.
mice with mutations in specific genes tend to exhibit typical behaviors associated with autism in humans, and they can also act as a model system to help study the pathogenesis of autism, while also helping scientists learn more about why autism occurs in humans.
In mouse models like this, researchers have revealed for the first time that mutations in the autism-related neuroconnective protein 3 gene interfere with the oxytocin signaling path in the brains of mice, reducing social relationships or social interactions in mice;
researcher Scheiffele said: 'We speculate that the oxytocin-mediated signaling paths may play a key role in the development of autism, but we have accidentally found that mutations in neuroconnective protein 3 may damage the signaling paths of oxytocin, and now researchers have successfully stitched together the two mechanisms behind the occurrence of autism for analysis.'
In addition, the researchers found that changes in the oxytocin system in mice with neuroconnective protein 3 gene mutations could be recovered through protein-synthesizing pharmacological preparations that promote the normalization of social behavior in mice and other health benefits. Similarly, mice did not respond the same way to familiar or unfamiliar peers, and importantly, the same inhibitors improved their behavioral symptoms in another group of autistic rodent models, suggesting that the therapy could be widely used in the treatment of autistic people. The
concluded that the fusion of the three important elements newly discovered in the study ( genetic factors, changes in neuron protein synthesis, and the regulation of social behavior by the oxytocin system) may explain how the multiple factors involved in autism occur are linked, and that the findings may help develop special therapies to treat specific aspects of social behavior in some autistic people.
() Original sources: H?rnberg, H., P?rez-Garci, E., Schreiner, D. et al. Rescue of oxytocin response and social behaviour in a mouse model of autism. Nature (2020). doi:10.1038/s41586-020-2563-7.