Discovering molecular mechanisms associated with autism and schizophrenia – Vida Actual – Latest news from Uruguay and the world

More than a dozen institutions around the world have been involved in the most advanced brain analysis so far, which among other conclusions links the molecular effects that certain genetic variants have on the brain with autism spectral illnesses and schizophrenia.

Since the end 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 disorders, and these studies reveal new mechanisms for these diseases.

A series of surveys published today "offer a plan for the development of a new generation of treatment for psychiatric illnesses", according to the statement of the University of California, Los Angeles (UCLA).

This work "provides some of the missing links needed to understand the mechanisms of psychiatric illness," said Dr. Daniel Geschwind of UCLA and lead author of two out of ten studies.

They all depend on the PsychENCODA Consortium, a multidisciplinary effort that was set up in 2015, aimed at discovering the molecular mechanisms that underlie schizophrenia, bipolar disorder, and disorders of the autism spectrum.

In the last decade, scientists have conducted genetic studies in psychiatric patients and compared them with healthy individuals to determine which genes have different sequences in the first, although their findings often lead to more questions than answers.

Experts have not only discovered the existence of genes associated with these diseases, but also that it seemed that the hundreds of DNA domains that are found among genes – called regulatory DNA – are also the ratio.

Scientists know that these regulatory sections of the DNA can control when and where and how the genes turn on and off, but they find out which "regulatory regions" affect which genes and thus the RNA and proteins encoded by the genes. "It's not easy."

There is a set of new data – essentially a detailed model of the internal molecular action of the human brain – as a starting point for other researchers to examine the mechanisms of the disease and the possible goals of the medicines.

"This resource is so wide that it can start with the selection of diseases associated with the genetic variant, and deeply discover what influential molecular networks have on the brain," said Geschwind.