[Asia Economy Reporter Junho Hwang] The function of a gene in the brain, known to cause intellectual disabilities characterized by developmental delays in intelligence and difficulties in learning and daily life, as well as epilepsy accompanied by loss of consciousness and seizures, has been identified by domestic researchers.
Professor Ki-Hoon Han of the Department of Neuroscience at Korea University College of Medicine, Professor Seyoung Choi of Seoul National University School of Dentistry, and Research Group Leader Gyeju Lee of the Korea Brain Research Institute announced on the 6th that they have specifically elucidated the function of the 'CYFIP2 gene' in our brain through joint research.
The research team specifically clarified the brain function of the CYFIP2 gene and found clues for treating intellectual disability and epilepsy symptoms caused by mutations in the CYFIP2 gene.
The team focused on overseas research cases repeatedly linking mutations in the CYFIP2 gene with intellectual disability and epilepsy. They created a mouse model with reduced expression of CYFIP2 and analyzed changes occurring in the medial prefrontal cortex region of the brain, which is related to memory, decision-making, empathy, and emotional regulation. As a result, they discovered selective changes in layer 5 neurons among various nerve cells.
The layer 5 neurons of mice with reduced CYFIP2 expression had larger synapses compared to neurons of normal mice. Additionally, the excitability of these neurons was excessively increased. Increased neuronal excitability is known as one of the main causes of epilepsy, and experimental results showed that mice with reduced CYFIP2 expression responded much more sensitively to drugs that induce epilepsy symptoms.
Furthermore, based on cases where lithium medication improved symptoms of brain disorders such as bipolar disorder and Fragile X syndrome?a genetic intellectual disability disorder caused by abnormalities in genes on the X chromosome?the research team examined the effects of lithium on mice with reduced CYFIP2 expression. The results confirmed that the excessively increased excitability in layer 5 neurons of the medial prefrontal cortex, sensitivity to epilepsy-inducing drugs, and behavioral abnormalities all returned to normal levels.
Epilepsy, characterized by intellectual disability causing difficulties in learning and daily life and accompanied by loss of consciousness and seizures, is a representative disease caused by brain dysfunction. To date, numerous gene mutations related to the onset of intellectual disability and epilepsy have been reported. However, cases where the specific mechanisms causing brain dysfunction have been elucidated, as in this study, are rare. This research achievement was published in the clinical neurology journal 'Annals of Neurology.'
© The Asia Business Daily(www.asiae.co.kr). All rights reserved.
