The rate of mutations is rarely 3 to 4 times greater in schizophrenia

Researchers at Washington University and Cold Spring Harbor lab have discovered some genetic errors, which may shed light on the causes of schizophrenia.Scientists found that the rate of missing and duplicated fragments on DNA occurs more frequently in people with mental disorders, and many of those errors occur in genes that are involved in brain development. and nerve functions.

About 1% of the world's population is infected with schizophrenia - a debilitating mental disorder. People with schizophrenia suffer from hallucinations, paranoia, thinking disorders, and often have abnormal or bizarre expressions. This disease has a great impact on social and professional activities, while consuming a huge medical expense.

The team of investigators, directed by Tom Walsh, Jon McClellan, and Mary-Claire King at UW, and Shane McCarthy and Jonathan Sebat at Cold Spring Harbor, have determined whether genetic errors, including loss and multiplication rare DNA pairing, contributing to the formation of schizophrenia. The findings were recreated by a research team at the National Council for Neurological Health, published in the March 27 issue of the online journal Science.

Some passages and duplications are normal and can be found in anyone. The researchers looked at such mutations found in people with the disease, and compared them to mutations in healthy people. They theorized that rare mutations found only in people with schizophrenia can disrupt genes related to brain function; and therefore can cause schizophrenia.

In the main step to address schizophrenic problems, researchers have found that the rate of missing and duplicated fragments on DNA occurs more frequently in people with mental disorders. and many of those errors appear in genes that are involved in brain development and neurological functions.(Photo: iStockphoto / Kiyoshi Takahase Segundo)

Study to use DNA of 150 schizophrenic patients and 268 healthy people. The survey showed that rare gene loss or duplication is seen in more than 15% of people with schizophrenia, compared with 5% in healthy people. This rate is even higher in patients with schizophrenia exposed at a younger age, 20% of these patients have rare mutations.

The findings were reappeared by a second team led by Anjene Addington and Judith Rapoport of the National Council for Neurological Health. They found a higher rate of rare loss or duplication in patients with schizophrenia before the age of 12, a rare and very severe form of disorder.

These results suggest that schizophrenia is caused by different types of mutations in different genes , each of which leads to disruption of important processes in brain development. When a mutation has been found that causes this disease, other mutations can also be found in the same gene in another patient.

Therefore, in most cases of schizophrenia, genetic causes are different. This observation has important implications for schizophrenic research. Currently, most genetic studies consider similar mutations in many patients. The method will not work if most patients have different mutations.

But fortunately, some of the available genetic technologies allow researchers to explore rare mutations in people with disorders. As technologies are improved, we will be able to detect other types of mutations that cause the disease. And finally, the recognition of the broken genes in people with schizophrenia will be the premise for the development of new treatments.

The team consists of many scientists from different institutions, including Evan Eichler and colleagues at Washington University, and investigators at New York State University at Stony Brook, Medical Center in Cleveland. , University of North Carolina, University of California Los Angeles, National Cancer Council, and National Council on Aging.

The study received funding from numerous funds and agencies, including Forrest C. Foundation and Frances H. Lattner, NARSAD, Simons Foundation, Stanley Medical Research Foundation, Howard Hughes Medical Council, National Council. about aging, the National Council for Neurological Health, and the Branch of Neurological Health of the Washington State Department of Social and Health.