A new study points to genetic changes in brain development that may contribute to schizophrenia

A joint study between researchers at the Icahn School of Medicine at Mount Sinai and Harvard Medical School found genetic changes that occur during brain development and may contribute to the development of schizophrenia.

Research, published in Sciencereveals that in addition to genes inherited from parents, certain changes that occur after conception, called somatic mutations, can play a major role in the development of this disease. The paper is called “Somatic mosaicism in schizophrenia brains reveals patterns of changes in pregnancy.”

The study is the first to examine whether certain mutations, known as nucleotide variants—small changes in a single “letter” of the DNA code—can increase the risk of schizophrenia along with genetic factors. inherited.

The researchers studied postmortem brain tissue from people with schizophrenia and a group of people without the condition as controls. By sequencing DNA from neurons in the dorsolateral prefrontal cortex, an area of ​​the brain important for cognitive function, the team identified single nucleotide variants.

This study is important because it found that people with schizophrenia have more mutations in certain areas of the brain’s DNA than those without the condition. Some of these changes are thought to disrupt important biological processes involved in brain development and function, which may contribute to the symptoms of schizophrenia.

“This study provides important insight into the genetic factors that contribute to schizophrenia,” said co-author Andrew Chess, Ph.D., the Icahn Professor of Genetics and Genomic Sciences at Mount Sinai.

“In addition to the inherited changes that we normally think of, we are now seeing that changes that occur during brain development can also contribute to the disease.”

Schizophrenia affects approximately 1% of the population worldwide, making it an important public health issue. By highlighting the potential role of somatic mutations, this study adds a new layer of complexity to our understanding of the disease. It also highlights the importance of investigating inherited and non-inherited genetic changes to fully understand how schizophrenia develops.

The researchers also found that some changes had a molecular signature previously seen in post-inflammatory changes, consistent with the possibility that environmental factors, such as infection of the mother during pregnancy, may play a role in the development of schizophrenia.

These findings may inform future treatment strategies by identifying new genetic targets for drug development.

This study marks a pioneering effort to examine the role of different nucleotide variants in schizophrenia. The authors plan to expand their research by analyzing a larger population and using emerging DNA technologies to evaluate the genes affected by these somatic mutations in detail.

The main goal is to deepen our understanding of how these genetic changes affect brain development and contribute to mental health problems.

“As we continue to explore these changes and their effects on brain function, we hope to uncover new avenues for potential therapeutic interventions,” Dr. Chess added.

“By expanding the number of cases we study and using the latest technology, we aim to better understand the genetic mechanisms underlying schizophrenia and ultimately improve outcomes for those affected by the disease.”