A new gene responsible for autism has been identified thanks to an international work, led by the University of Turin and the City of Health of Turin, in collaboration with the University of Cologne. Published in the journal Brain, a study has in fact made it possible to demonstrate that mutations in the Caprin1 gene are responsible for alterations of specific neuronal mechanisms, which, from a clinical point of view, cause a form of autism spectrum disorder. The work is based on new DNA sequencing technologies and on the development of in vitro models of neuronal cells.
The study was coordinated by Professor Alfredo Brusco, professor of Medical Genetics at the Department of Medical Sciences of the University of Turin and of University Medical Genetics of the Città della Salute of Turin. They demonstrated the role of the Caprin 1 gene in the development of a rare form of autism.
The step forward in understanding the genetic basis of autism takes place within the NeuroWes Project of the University of Turin: The use of human gene sequencing technologies (exome analysis and genome analysis) has allowed through a collaboration international organization to identify 12 patients affected by this form of neurodevelopmental disorder and to understand the associated biological mechanisms. The research group of the NeuroWes Project has been dedicated since 2015 to the study of the genetics of autism spectrum disorders, thanks to the collaboration with many Italian groups and Mount Sinai in New York. The analysis of hundreds of patients made it possible to identify a Piedmontese case in which a large region of a chromosome including the Caprin1 gene was lost.
This initial observation made it possible to hypothesize its role in the pathogenesis of autism. Subsequent identification of 12 patients with a mutation in the gene demonstrated its pathogenic role. Patients have speech delay, intellectual disability, attention deficit hyperactivity disorder, autism spectrum disorder. Research has shown that losing one of the two copies of Caprin1 causes an alteration in the organization and function of neurons, as well as their electrical activity. The importance of the study also lies in the definition of the biological role of Caprin1, as it was possible to demonstrate that it regulates the synthesis of many proteins in neurons by regulating the expression of many genes in the brain. Caprin1 is a very important protein, therefore a junction at the intersection of numerous biological mechanisms of neurons, which will allow the identification of numerous other genes associated with neurodevelopmental disorders. The identification of new genes associated with forms of autism spectrum disorder is rapidly evolving and over 1,000 genes are expected to be implicated in the pathogenesis of this condition.
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