The researchers involved about 35 thousand people, of which 12 thousand with a diagnosis of autism, while the other 23 are members of their family. The work, begun in 2015, has led to the discovery of more than 30 genes most associated with autism. To get to this result, the scientists have chosen a technique of Dna sequencing is to use fairly recent, known as the analysis of the esoma, which allows you to examine all the genes and to discover possible genetic mutations linked to various diseases.
102 genes associated with autism Thanks to the use of this technique on a sample of the variety of people and to the processing of the data, it was possible to identify 102 genes, whereas until recently, the list contained only 65. “Each one of these, " explains Alfredo Brusco , professor of medical genetics at the City of the Health of Turin – has been linked to a different form of autism, within the vast 'container' that includes all the autistic spectrum disorders”. These disorders of neurodevelopment, in fact, are very numerous and different in symptoms and severity, as explained by the expert, and correspond to alterations of different genes.
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Give a genetic diagnosis Of the 12 participants with a diagnosis of autism, and in 30% of cases, the authors were able to identify a genetic mutation associated with the disease. “For the remaining part continues the Sharp – we hope to be able to study, in the future, the presence of other genes linked to autism, which we estimate can be also 1000. Or a combined action of multiple genes at the same time, in the so-called forms polygenic, a road of research that has still not been sufficiently thorough and that it is difficult to study.” The result today is important because it allows a better understanding of the gears of the disorders of neurodevelopment. “To be able to associate a specific gene (a mutation) in many of the forms from which they are suffering the participants is a relevant step,” explains the expert, “it means being able to provide a genetic diagnosis to families of people with autism are often very crippling”.
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Mutations are not present in the parents But there is another important element that emerged from the study. “These genetic mutations are de novo, i.e. changes that have occurred in the individual, but that are not present in the genetic makeup of the parents”, emphasises the Sharp, “so, not inherited. This implies that at least a part of the autism spectrum disorders is due to random mutations that occurred in the reproductive cells, and explains the lack of recurrence of the disease in families.”
The next step will be to understand what caused the other cases. “Studying these and other genes – concludes the expert – it is essential for a better understanding of autism and in the future get to build new tools to deal with it”. Are not, in fact, still well clear of all the causes of autism, although experts at the international level agree that there are both genetic factors as environmental. Among these, a strand of research is devoted to the study of how exposure to some drugs during pregnancy may increase the risk of autism for the baby.
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