The Korean Brain Research Institute and POSTECH identify the initiation mechanism of epilepsy

The Korea Brain Research Institute (KBRI, President Suh Pann-gil) conducted joint research using a mouse model by Jong-chul Ra, a senior researcher in the Sensory and Motor Systems Research Group, and Seung-tae Baek, a professor of life sciences at POSTECH (President Moo-hwan Kim), to maintain a linear sebaceous gland nevus, one of the causes of epilepsy, It was announced on the 7th that the neuropathological pathogenesis of the syndrome was identified for the first time.

Linear sebaceous nevus syndrome (LNSS), a rare neurological disease, causes surgically treatable diseases, such as skin lesions and skeletal abnormalities, but also causes intractable brain diseases such as epilepsy and developmental disorders. However, the detailed neuropathological mechanisms have not yet been elucidated.

Using a mouse model, the joint research team confirmed that the abnormal growth of nerve cells (neurons) in the brain and an imbalance of excitatory-inhibitory electrical signals can cause epilepsy caused by sebaceous gland nevus syndrome.

As a result of the insertion of a protein mutation gene (KRASG12V) associated with the syndrome into the growing neurons of the mouse brain, there is a phenomenon of subcortical nodular heterosis in which neurons in the base of the cerebral cortex of the brain do not normally grow out and collection only. in the foundation is found.

Ra Jong-chul, senior researcher at the Korea Brain Research Institute (right) and Kim Yong-seok, student researcher

In addition, the excitatory nerve cells (neurons) into which the mutant gene was injected are more excitable than usual and the inhibitory nerve cells are less active than usual. Pathological signs were found.

Professor Baek Seung-tae said, “We have confirmed that some neurodevelopmental defects can be restored by controlling the etiologic mutant protein found in patients with sebaceous gland nevus syndrome.” In a situation where there are not many treatments for neurological symptoms such as epilepsy and focal. cortical dysplasia, this study will be of great help in the development of future treatments.”

For this study, POSTECH student Kim Ye-eun participated as the first author along with student researcher Kim Yong-seok through the DGIST-Korea Brain Research Institute academic research program. The results of the research were recently published in ‘Cell Reports’, an online sister journal to ‘Cell’, an international academic journal.

Daegu = Reporter Jeong Jae-hoon

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