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Autism, the most important study on genetics is published

2022-11-09 22:13:02Lifestyle SHKRUAR NGA REDAKSIA VOX
Autism, the most important study on genetics is published
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An international study published in the journal "Cell" identified 102 genes implicated in the risk of autism spectrum disorders, 30 of them still unknown.

As focus.it writes, "the study used recently developed gene sequencing techniques to study the DNA of over 35,000 subjects. "Almost 12,000 of which are affected by autism: in particular, the exome, the part of DNA that codes for proteins."

The exosome was analyzed, thus managing to identify both the roles of the genes involved and the type of mutations affecting them. The study was conducted by Joseph Buxbaum (New York), Alfredo Brusco and Giovanni Battista Ferrero (University of Turin) and Alessandra Renieri (University of Siena).

In recent years, scientific data have allowed us to begin to understand the causes of autism spectrum disorder: only 15 years ago the causes were largely mysterious and the role of genetics in this disease was not at all clear.

First, it was realized that the genetic component is important in autism spectrum disorder, which is actually not a disease, but a very large group of diseases. This work is not the first to identify new genes, but it continues to confirm these hypotheses and expands the genes that are unequivocally linked to the disease.

Another important point is to have confirmed that some more serious forms are associated with very destructive mutations in single genes: these mutations are "de novo", that is, originating from the level of gametes in the parents of affected subjects.

The identification of new genes gives us new insights into the mechanisms involved in the disease: the study shows that there is not just one class of cells involved in autism, but rather that many changes in brain development and neuronal function can lead to autism .

The identified genes are expressed very early in brain development and confirm autism as a neurodevelopmental disease. Their function is often key in gene expression regulation processes or in communication between neurons at the level of synapses.

Knowing the genes of autism allows us to better understand the mechanisms underlying brain development. At the same time it allows us to hypothesize strategies to correct the altered processes. It's a long road, but it starts with knowing the genetic basis. What awaits us in the future?


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