Scientists Discover Gene Mutations Associated with Schizophrenia

Two studies published in “Nature” identify genetic mutations and dozens of genes that can increase the risk of developing the disease. Scientists hope the findings will make advances in treatment possible. Two international teams of researchers claim to have discovered genetic mutations that strongly influence a person’s likelihood of having schizophrenia and dozens of genes that could play a role in the development of the disease. The findings were reported in two articles published in the journal Nature.

One of them, considered the largest genetic study of schizophrenia ever undertaken, was conducted by the Psychiatric Genomics Consortium (PGC), led by scientists at Cardiff University in the United Kingdom.

They took a very broad approach, investigating the entire genome, that is, the entire genetic material of the organism, to look for specific genetic variations that increase a person’s risk of developing schizophrenia.

By analyzing the DNA of about 77,000 people with schizophrenia and about 244,000 without the disorder, they found nearly 300 parts of the genome that could be linked to the risk of having schizophrenia. Within these regions, they discovered 120 genes that could influence the development of the disease.

The other study was conducted by the international consortium Schema (Schizophrenia Exome Meta-Analysis), led by researchers from the Broad Institute, the Massachusetts Institute of Technology (MIT) and Harvard University (USA).

The researchers found ten genes with rare mutations that appear to increase the risk of developing schizophrenia, and another 22 genes that could play a role in this process.

“We all have a 1% chance of developing schizophrenia,” Benjamin Neale, co-author of Schema and a member of the Psychiatric Genomics Consortium, said in a press release. “But if you have one of these mutations, the chance becomes 10%, 20%, even 50%.”

Genetic mutations help map the origins of schizophrenia in the brain.

Development of new drugs

Schizophrenia is a mental condition characterized by hallucinations, periods of psychosis and a detachment from reality. The World Health Organization (WHO) estimates that the disease affects one in 300 people worldwide. But so far, it’s not really known what happens in the brain to trigger it.

Scientists say the new findings are unlikely to have an immediate impact on the lives of patients with schizophrenia, but they could help improve drug treatment in the near future.

Medications for schizophrenia already exist, but they do not attack the root of the disorder. The drugs in use only attenuate the effects or symptoms, without treating or curing the disease itself.

The most common medication for schizophrenia is chlorpromazine, originally developed as an anesthetic, but later doctors discovered that it helps prevent hallucinations in psychiatric patients. “It was an accidental find. It didn’t come from psychiatric research,” says Stephan Ripke, a researcher at the Charité University Hospital in Berlin and co-author of one of the two articles published in Nature.

Ripke and the other scientists believe that, in addition to helping to determine a person’s risk of having schizophrenia, the new findings could contribute to the development of drugs to specifically attack the root cause of the disease.

Why is it difficult to study schizophrenia

Schizophrenia usually begins to manifest in patients in their late teens, around age 20.

Researchers have already managed to study the environmental aspect of the disease: they have found, for example, that the environment in which a person grows up, the use of marijuana in adolescence and the mother’s diet during pregnancy can increase the chance of developing the disorder.

Although scientists know that schizophrenia is 60% to 80% hereditary, they had little knowledge about the genetics of the disease until now.

This is partly because schizophrenia cannot be diagnosed through a blood or brain test. Ripke points out that what you do is talk to patients. “Basically, we need to know if people have hallucinations, if they hear voices,” she says.

This means that research on schizophrenia has to be done in humans. Ethical concerns prevent scientists from simply collecting the samples they need to facilitate genetic analyses, but that is possible when patients volunteer, says Ripke.

“Our study would never have worked without the trust of thousands and thousands of patients who gave us their genetic information,” says the expert. “We are very grateful to all the people who have entrusted us with their data.”



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