A little bit more is now known about schizophrenia, an illness that affects less than 2 percent of the population, but that is highly debilitating and requires lifelong therapies (with a strong impact also on patients’ families): researchers from the Icahn School of Medicine at Mount Sinai University in New York (USA) have in fact managed to identify more than 400 genes, the variants of which are associated with this disorder. The researchers also identified 13 brain regions that play a part in the disease.
This result was achieved thanks to a technique called Transcriptomic Imputation, which combines the diagnostic capacity of the most modern sequencers of large traits of genetic material with the possibilities offered by artificial intelligence (capable of learning from the information that it provides and to thus improve its predictive power). The technique was applied to the DNA of more than 40,000 patients and 62,000 healthy people, of all ages.
As reported in the scientific journal Nature Genetics, the study made it possible to identify the genes most often associated with schizophrenia, but also to distinguish between those that are expressed during several specific stages of pregnancy, or during adolescence and adulthood. Furthermore, the researchers discovered that several areas of the brain played a bigger part than others, such as the dorsolateral prefrontal cortex, which has the most associations with the abnormalities of schizophrenia.
“Our new predictor models gave us unprecedented power to study predicted gene expression in schizophrenia, and to identify new risk genes associated with the disease,” said Laura Huckins, researcher at the Icahn School of Medicine at Mount Sinai. “In particular, it was fascinating to see schizophrenia risk genes expressed throughout development, including in early pregnancy.”
All of this offers a clearer vision of the disease, and can also lead to new, more targeted and specific therapeutic approaches, seeing that the treatments currently offered have a wide number of side effects and are not as effective as would be hoped.