Domestic Researchers Identify New Cause of Rare Brain Development Disorder 'West Syndrome'

From the left, Eun-Jun Kim, Director of the Institute for Basic Science, Mu-Won Kang, Graduate Student, Ki-Hoon Han, Professor at Korea University College of Medicine, Eun-Hwa Jang, Ph.D., and Hye-Rim Kang, Graduate Student.

[Asia Economy Reporter Kim Young-won] Domestic researchers have identified a new cause of West syndrome, a rare brain development disorder.

The Department of Neurology at Korea University College of Medicine and the Synapse Brain Disease Research Center at the Institute for Basic Science (IBS) (Director Eunjoon Kim, KAIST Distinguished Professor) announced on the 24th that through joint research, they confirmed in an animal model that a single nucleotide variant of the CYFIP2 gene can be a cause of West syndrome.

West syndrome is a rare brain development disorder occurring in fewer than 6 out of 10,000 newborns. Symptoms such as infantile spasm and epilepsy appear before the age of one, and it is an intractable disease accompanied by intellectual disability and developmental disorders thereafter. The research team focused on the fact that multiple CYFIP2 gene variants were reported in genomic analyses of West syndrome patients conducted abroad recently, and they created and analyzed a mouse model with the most frequently occurring variant (hotspot mutation, p.Arg87Cys).

The study confirmed that CYFIP2 gene-modified mice exhibited representative symptoms seen in West syndrome patients, such as spasm behavior in early life, cerebellar hypoplasia, and developmental disorders. Additionally, in adulthood, the team discovered neuronal loss in the hippocampal region of the brain and excessive growth of astrocytes and microglia (gliosis).

Professor Ki-Hoon Han, the principal investigator, said, "The most important achievement of this study is verifying the causal relationship between the CYFIP2 gene variant found in patients and the onset of West syndrome, while specifically elucidating the impact of this variant on the CYFIP2 protein." He added, "The CYFIP2 gene-modified animal model developed this time has great value for in-depth neuroscience research on the pathogenesis of West syndrome and the development of new treatments."

This research was led by KAIST graduate student Mu-won Kang and Dr. Eun-hwa Jang and graduate student Hye-rim Kang from Korea University College of Medicine as co-first authors, and co-corresponding authors Director Eunjoon Kim of the IBS Synapse Brain Disease Research Center and Professor Ki-Hoon Han of Korea University College of Medicine. It was supported by the Ministry of Science and ICT, the National Research Foundation’s Mid-career Researcher Support Program, the Brain Science Core Technology Development Project, and the IBS Synapse Brain Disease Research Center.

The research results were published online on the 17th in the international journal Neurology under the title "The CYFIP2 p.Arg87Cys causes neurological defects and degradation of CYFIP2."

This content was produced with the assistance of AI translation services.