KAIST conducts research using a model of intractable epilepsy in the brain, ‘[edaily Kang Mingu, reporter] A research team at the Korea Advanced Institute of Science and Technology (KAIST) has revealed that brain seizures can occur due to abnormal brain function triggered by extremely small mutations in less than 0.1 percent of neurons.’, ”, ”, ‘KAIST announced on the 9th that Professor Lee Jung-ho of the KAIST School of Medicine conducted this research through a study on a pediatric intractable epilepsy animal model caused by cell-specific mutations and patient brain tissue research, which was published in the international academic journal ‘Brain’ on the 25th of last month.’, ”, ”, ‘
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‘, ‘In this study, the research team used mouse disease models and human tissue to answer the question of how the accumulation of specific genetic mosaicism (the potential for mutations to occur in each cell) in a minimal number of cells leads to the development of overall brain dysfunction and subsequent brain disorders.’, ”, ”, ‘First, they induced epilepsy-causing somatic mosaicism in the brain tissue of experimental mice ranging from several hundred to tens of thousands of cells. When 8,000 to 9,000 mutated nerve cells appeared, the experimental mice began to experience seizures and associated pathology. In addition, they confirmed epilepsy-causing somatic mosaicism as little as 0.07% through large-scale genetic information amplification sequencing on brain tissue from patients with intractable epilepsy.’, ”, ”, ‘These research results could help in the genetic precise diagnosis of intractable epilepsy, which does not respond to drug therapy and may require surgery. It indicates a close relationship between ultra-small mutations occurring during brain development and differentiation processes and poorly understood intractable neuropsychiatric disorders.’, ”, ”, ‘The study is expected to lay an important foundation for improving the diagnosis of focal cortical dysplasia (a condition where localized neuronal abnormalities occur in the cerebral cortex during brain development) and discovering the causes of brain disorders due to somatic mosaicism.’, ”, ”, ‘In the future, KAIST plans to utilize SoBagene, a startup founded by KAIST faculty members, for innovative RNA therapy development targeting somatic mosaic mutations in patients with intractable epilepsy.’, ”, ”, ‘Dr. Kim Jin-tae, a graduate physician-scientist from the KAIST School of Medicine and the first author of the paper, stated, “Even extremely small somatic mutations can induce abnormal brain function,” adding, “I hope this research will be helpful for genetic diagnosis and drug development for intractable epilepsy and other related disorders.”‘, ”, ”,