An international study led by University of Turin, in Italy, discovered that mutations in a new gene may be associated with rare forms of autism spectrum disorder (ASD).
In addition to the institution, the city's City of Health and Science hospital and experts from the University of Cologne, Germany, participated in the research.
According to the results published in the magazine “Brain”, the analysis used new DNA sequencing technologies and the development of in vitro models of neuronal cells that demonstrated that mutations in the Caprin1 gene are responsible for changes in specific mechanisms that cause a type of disorder in neurons.
The research was coordinated by the professor of Medical Genetics at the Department of Medical Sciences at the University of Turin and from the same sector of the hospital, Alfredo Brusco, and managed to identify 12 ASD patients who have this change.
The research group of NeuroWes Project Since 2015, he has been studying the genetics of ASD, also with the collaboration of other Italian groups and Mount Sinai in New York.
The analysis of hundreds of patients treated by the institutions involved made it possible to individualize the case of an Italian man from Piedmont in whom a large region of a chromosome containing the Caprin1 gene had been lost. This observation made researchers question the role of this mutation in the person's autism.
So, analyzes were carried out on hundreds of cases and 12 were positive for this specific mutation. The research also showed that losing one of the two copies of Caprin1 causes a change in the organization and functions of neurons as well as in their electrical activity.
The importance of the study also lies in the issue of defining the biological role of Caprin1, as it was possible to demonstrate that it regulates the synthesis of many proteins in neurons, and also regulates the expression of many genes in the brain.
Caprin1 itself is considered a very important protein at the intersection of numerous biological mechanisms of neurons and its understanding will also help to identify numerous other genes linked to various problems in neurodevelopment.
The identification of new genes associated with forms of ASD is rapidly evolving and it is predicted that there are more than a thousand of them implicated in the cause of this condition. (Handle)
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