Consortium with researchers from 45 countries identifies specific genes for schizophrenia

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The largest international genetic research to date on schizophrenia has identified a number of specific genes that play an important role in the development of mental illness. The results show that 24% of the causes of schizophrenia are due to a type of genetic variation called SNV. Single nucleotide polymorphism).

The megawork was carried out by the Psychiatric Genome Consortium (PGC), led by scientists Michael O’Donovan and James Walters at Cardiff University in Wales, and attended by researchers Sintia Belangero, Ary Gadelha, Rodrigo Bressan and Cristiano Noto. , Marcos Santoro and Vanessa Ota of the Federal University of São Paulo (Unifesp), and Quirino Cordeiro of Santa Casade Misericórdia de São Paulo.

A group of hundreds of researchers from 45 countries analyzed the DNA of 76,755 schizophrenic volunteers and 243,649 unimpaired (control group) to better understand the genes and biological processes that underpin this condition. Did.

Main results

According to Principal Investigator Cyntia Belangero, co-author of an article published in the journal NatureThe genetic association with schizophrenia was much higher than previously reported in the scientific literature, and it was found that there are associations in 287 different regions of DNA.

The association focused on genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types.

Using detailed mappings with functional genomic data, 120 genes (encoding 106 proteins) that are likely to support associations on some of these chromosomes have been identified.

Read too: Lumateperon: A new drug for the treatment of schizophrenia

According to researchers, these genes can make a strong contribution to the disorder. In addition, new data point out that the genetic risk of schizophrenia is found only in neurons, the biological role of these cells is important in the development of the disease, and these specific brain genes It suggests that it may help in the development of new treatments.

“We have identified a biological process associated with the pathophysiology of schizophrenia, which demonstrates the convergence of common and rare mutation-related associations in schizophrenia, in addition to neurodevelopmental disorders. It provides resources for priority genes and mutants to advance, “the article states.

Global studies also shed light on the genetic basis of schizophrenia. “Most patients do not respond well to current treatments, so this level of research is essential for science to better understand the disorder and contribute to the development of new therapeutic targets,” said another co-author of the article. One Ary Gadelha says.

Genetic variation SNV

The results revealed that 24% of the origin of the disease could be due to a type of genetic variation called SNV. “Remember that other genetic factors, such as mutations and environmental factors, may also be involved,” Professor Sintia Belangero explained in an interview with Unifest Portal.

Previous studies have already shown a link between schizophrenia and anonymous DNA sequences, but it’s almost impossible to link findings to a particular gene, according to research co-leader Professor Michael Odnovan. was.

“In addition to significantly increasing the number of these genetic associations, this study was able to correlate many of them with specific genes, which helped us understand the cause of this disorder and provide new treatments. It’s a necessary step in a difficult journey to identify. “

see next: Psychomotor agitation in bipolar disorder and schizophrenia: Sublingual dexmedetomidine FDA approved

The findings further suggest that abnormal neuronal function in schizophrenia affects many areas of the brain and can explain many of its symptoms, including hallucinations, delusions, and thought distortion. I can do it.

Greater representation in scientific research

The fact to emphasize is that more than 7,000 people with African-American and Latino ancestry are included in the study and are not usually included in global studies. For the researchers involved, this is a small step to ensure that the progress gained from genetic research benefits more individuals.

Other initiatives to include more representatives of the African and Latin American population, such as projects, have already been implemented. Populations underestimated in psychiatric association studies (PUMAS) includes researchers from four African countries and three Latin American countries, including Brazil.

In the country, the project has recently begun data collection and is led by Professors Ary Gadelha and Sintia Belangero, who are also participating in the aforementioned global survey.

About schizophrenia

Schizophrenia is a serious mental illness that affects 24 million people worldwide, including 2 million Brazilians. This represents one in 300 people worldwide suffering from the disease, an even higher percentage among adults (1 in 222).


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