"The Cause of Schizophrenia is Acquired Brain Genetic Mutation"

Research Results by KAIST Research Team

Schizophrenia patient brain-specific somatic genetic variants disrupting synapse formation of neurons. Image courtesy of Korea Advanced Institute of Science and Technology (KAIST)

[Asia Economy Reporter Kim Bong-su] A study has revealed that the cause of schizophrenia, which often causes significant social controversy due to brutal incidents, is not congenital but due to acquired mutations in brain genes.

The Korea Advanced Institute of Science and Technology (KAIST) announced on the 11th that Professor Lee Jeong-ho's research team at the Graduate School of Medical Science and Engineering, in collaboration with Dr. Kim Sang-hyun's team at the Stanley Medical Research Institute in the United States, identified that acquired brain-specific somatic mutations significantly contribute to the onset of schizophrenia.

Schizophrenia is a disease with a high incidence rate of 1 in 100 people worldwide. Recently, there has been increasing negative public opinion as patients with schizophrenia have committed cruel crimes against those around them. However, the fundamental cause has not been clearly identified. Previous studies mainly investigated mutations in peripheral tissues such as blood or saliva of patients to determine the genetic causes of schizophrenia, but these tissues have not fully revealed the molecular genetic causes of schizophrenia.

Accordingly, the research team focused on brain-specific somatic mutations present only in the brains of patients, which are not detectable in blood or saliva, as a possible factor influencing the pathology of schizophrenia. The team applied whole-exome sequencing techniques to postmortem brain tissues obtained from 27 schizophrenia patients to identify brain-specific somatic mutations present in the brains of schizophrenia patients. To achieve this, the team established a proprietary analysis pipeline through high-depth whole-exome sequencing to accurately detect low-frequency somatic mutations.

Notably, the brain-specific somatic mutations found in the brain tissues of schizophrenia patients were mainly distributed in genes that play important roles in neural information exchange and neurodevelopment, demonstrating that somatic mutations in the patients' brains could disrupt neural circuits and cause schizophrenia.

Dr. Kim Myung-hee, the lead author of the paper, said, "We are pleased to have taken a step closer to identifying the cause of schizophrenia, which is commonly found around us but has been rejected due to unclear causes," adding, "Based on this research, if the causes of schizophrenia become clearer, it will help not only patients but also those around them to be freed from the suffering caused by the disease."

The research team plans to develop diagnostic and treatment methods for schizophrenia patients related to brain somatic mutations by utilizing these research results through a KAIST campus venture. The study was published on the 9th in the international psychiatry journal Biological Psychiatry.

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