The neuropathological pathogenesis of ‘glandular sebaceous nevus syndrome’, a cause of epilepsy in Korea, has been identified.
The Korea Brain Research Institute announced on the 7th that Jong-chul Ra, a senior researcher in the sensory and motor system research group, and Seung-tae Baek, a professor at Pohang University of Science and Technology, published the results of their research in the international journal Cell Reports .
Linear sebaceous nevus syndrome (LNSS), a rare neurological disease, causes surgically treatable diseases, such as skin lesions and skeletal abnormalities, but also leads to refractory brain diseases such as epilepsy and developmental disabilities.
This study confirmed through rat experiments that the abnormal growth of nerve cells (neurons) in the brain and the imbalance of electrical signals can cause epilepsy caused by sebaceous gland nevus gland syndrome.
The research team inserted a mutated protein gene (KRASG12V) related to the syndrome into neurons in the developing mouse brain. As a result, an abnormal phenomenon was found in which nerve cells at the base of the cerebral cortex of the brain did not normally develop outwards, but were only collected at the base.
In addition, excitatory nerve cells (neurons) injected with the mutant gene were found to have pathological signs of sebaceous gland nevus syndrome, which causes epilepsy, such as an imbalance of nerves that inhibit excitability.
Lead researcher Ra Jong-cheol said, “There are few treatments for neurological symptoms such as epilepsy, heterosis, and focal cortical dysplasia seen in sebaceous gland nevus syndrome.”
This study was conducted through the Daegu Gyeongbuk Institute of Science and Technology (DGIST) – Korea Brain Research Institute.