Largest study of its kind in which 50 centers participated: Finding 102 genes associated with autism opens doors to better diagnosis and more therapies.

01-24-2020

Although it is estimated that cases of autistic disorder (ASD) have doubled in the last 10 years, their origin and causes are still unknown.

But research published yesterday in the scientific journal Cell delivers a sharper picture of this condition.

In a work carried out among 50 centers around the world, a group of scientists discovered 102 genes associated with the disorder, which means that there are clues of which vehicles would lead to the disease.

The finding is not minor if two data are considered: until 2015, there were only nine genes identified and, on the other hand, almost 50% of the cases are due to genetics, but how many of the 20 thousand genes are still not well understood Humans contribute to the development of the disorder.

"The interesting thing is what we are going to be able to do with these genes," says Joseph Buxbaum, study leader and director of the Autism Research and Treatment Center at Mount Sinai Hospital Network (New York).

"The result will allow us to progress towards the separation of autism genes associated with brain development and those that are involved in brain function!" Explains Buxbaum.

With these data, he says, science is closer to targeted treatments, therefore, more effective.

This is the work of genetic sequencing associated with the largest autism to date, says Gonzalo Cancino, a researcher at the Center for Integrative Biology at the U. Mayor, who has published studies on the subject.

"Most of the investigations have taken samples (of DNA) of up to 10 thousand individuals, but here there are almost 36 thousand, so one could say that it is much more true that these genes are really associated with autism," says Cancino.

And the usefulness of the results is clear, says Andrea Aguirre, child and adolescent psychiatrist and academic at the Faculty of Medicine of the U. de los Andes.

"This was achieved is incredible," says the psychiatrist about the finding. "With this information you can start separating those genes to see what relationship they have with any symptoms, and that serves to produce a treatment," agrees Aguirre.

And he explains with an example: "If you find alterations in a neuron related to that gene, we could have a specific drug to ctuar in that neuron based on a cure that does not exist today."

Other Roads:

But I could also advance in the development of personalized therapies. "An area of ​​the brain related to a certain gene and its behavior could be stimulated electromagnetically," he says.

The results also have implications for diagnosis, says Guillermo Lay-Son, a geneticist at the UC School of Medicine.

Today, only 20% of autism cases have an explanation.

"Now, by having more associated genes, one could attribute it to some of them, depending on the symptoms, and understand the cause," says Lay-Son.

This would reduce what is known as "diagnostic odyssey," says the specialist. "It has to do with the fact that many people go through dozens of studies without a cause of their illness, so, delivering a diagnosis with a reason is a relief to many families."

But before medicine can achieve this or direct its chemical darts against a new battery of targets, scientists must unravel how the genes found to date contribute exactly to the condition.

Lay-Son explains that autism is a genetically complex condition, which acts under a kind of hereditary tangle. In fact, it is known that even the brothers who suffer from it have different genes associated with that disorder.

"It is complicated, because in addition the genes do not act by themselves, but the interaction between them also counts, and that complicates the scenario," he clarifies.

This means that achieving innovative treatments is a task that still requires a lot of work,"But this study is a giant step there," he says.

Source: El Mercurio