mutation génétique

Scientists study genetic mutations to treat schizophrenia

In order to find an adequate treatment for certain almost incurable diseases, numerous investigations are constantly being carried out. Until recently, scientists from the Columbia University Irving Medical Center studied the genetic mutations of people with schizophrenia. They want to use the results of this research to develop precision medicine for the treatment of the disease.

For this study, the team of geneticists led by the Professor Anthony Zoghbi focused on a set of 112 patients with severe schizophrenia. Researchers believe they can determine genetic variants disease-related starting point for the development of a precision medicine.

In addition, the group believes that their study may also to improve the quality of the advice given to families with schizophrenia. In addition, a good part of the research is sponsored by the foundation Chapman Perelman and the National Institute of Mental Health.

Patients with severe schizophrenia are the key

For the experiment, the choice made on patients suffering from severe schizophrenia is not a matter of pure chance. The entire group strongly believed that individuals with severe schizophrenia had a large quantity pathogenic genes. This assumption ended up being confirmed in the rest of the work.

“The hypothesis is that these patients might have a higher prevalence of pathogenic mutations because they have such a severe form of the disease, and that’s what we ended up seeing. “

Anthony Zoghbi, Assistant Professor of Molecular and Human Genetics of Psychiatry and Behavioral Sciences at Baylor College of Medicine

In addition, compared to people with typical schizophrenia, those with severe schizophrenia had a higher variant load. In view of these many advantages, the schizophrenics studied represented the point ofinitial anchoring for this research.

Reliable results

At the start of their experiment, the researchers inspected mutations infrequent (in the normal population) of harmful genes collected from the 112 patients. Next to a sequencing, these units were compared with those of several individuals. Some of these people were in good health, another had typical schizophrenia, while the last had severe schizophrenia.

Scientists have found that these damaging variants were present in more than 30% of people with schizophrenia and in less than 25% of healthy people.

“We believe that this method of study could constitute a new paradigm for trying to understand how to enrich a genetic signal in a psychiatric disorder by focusing on people very seriously affected by the disease. […] We hope this research will help draw attention to those patients who are often excluded from leading edge research due to the severity of their disease. “

Anthony Zoghbi

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