2024-07-26 05:45:18
TRENTO. The biological “engine” – which explains why autism is more frequent in men – has finally been discovered: the key lies in the interaction between an over-expressed gene, called Ube3aand male sex hormones.
The result, published in the journal Science Advancesis due to a study led by theItalian Institute of Technology of Roveretowhich they also collaborated on the University of Trento, the University of Pisa and the IIT of Genoa.
The research provides important new information for basic research on autism, highlighting biological mechanisms that were largely unknown until now. Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders characterized by deficits in communication and social interaction.
In Italy, it is estimated that approximately 1 in 77 children between the ages of 7 and 9 have an autism spectrum disorder, with a prevalence in males that is 4.4 times higher than in females. To shed light on this gender disparity, researchers coordinated by Alessandro Gozzi conducted experiments on mice in which an excessive expression of the Ube3a gene was induced, which often characterizes people diagnosed with autism.
The authors of the study thus discovered that Ube3a, in the presence of male sex hormones, activates a cascade mechanism on hundreds of other genes, causing their altered regulation. “Our study demonstrates what has long been suspected: that genetic mechanisms controlled by sex hormones contribute fundamentally to the diagnostic imbalance between males and females observed in autism,” says Gozzi.
“This result – adds Michael Lombardo of IIT, co-author of the research – represents a step forward towards understanding the complex genetic puzzle that lies behind autism”.
2024-07-26 05:45:18