They find molecular mechanisms linked to autism and schizophrenia ~ Future EFE


A person runs in front of a blue-lit building to celebrate World Autism Awareness Day. EFE / Villar López

More than a dozen institutions around the world have collaborated on the most thorough brain analysis so far, which among other conclusions connects the molecular effects that certain genetic variants have on the brain with autism spectrum disorders and schizophrenia.

Since the completion of the Human Genome Project in 2013, researchers have discovered genetic variants – small changes in the DNA sequence, so there are no two identical genomes – associated with neuropsychiatric diseases, and these studies reveal new mechanisms of these diseases.

The series of research published today "provides a road map for the development of a new generation of treatments for psychiatric illness," according to a statement from the University of California at Los Angeles (UCLA).

This work "provides some missing connections that were necessary to understand the mechanisms of psychiatric illness," said Dr. Daniel Geschwind of UCLA, and lead author of two of the ten studies.

They all depend on the Psychencode Consortium, a multidisciplinary effort established in 2015 and dedicated to uncovering the underlying molecular mechanisms of schizophrenia, bipolar disorder and autism spectrum disorders.

In the last decade, scientists conducted genetic studies on people with psychiatric illnesses and compared them with healthy individuals to find out which genes have different sequences in the first, though their findings often led to more questions than answers.

A starting point

Experts not only discovered the existence of genes linked to these diseases, but also that hundreds of areas of DNA located between genes – called regulatory DNA – also appeared to have a relationship.

Scientists know that these DNA regulatory sections can control when, where and how genes are activated and deactivated, but find out which "regulatory regions" affect which genes, and hence the RNA and the proteins encoded by the genes. " It's not easy ".

The set of new data – essentially a detailed model of the internal molecular functioning of the human brain – is now available as a starting point for other researchers to study the mechanisms of disease and possible drug targets.

"This feature is so broad that they can start by choosing a disease associated with a genetic variant and delving deeper into the impact that molecular networks cause on the brain," said Geschwind. EFEututuro

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