Effective New Drug Treatment for Epilepsy Linked to Autism Discovered by Korean Research Team
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A groundbreaking study conducted by a research team in Korea has unveiled a potential breakthrough in the treatment of epilepsy, a prevalent comorbidity in individuals with autism. Led by Kim Eun-joon from the Brain Synaptic Disease Center at the Institute for Basic Science (IBS), the team identified a novel pathogenesis of epilepsy that presents a high likelihood among autistic patients. This groundbreaking discovery has opened doors to the possibility of drug treatments specifically tailored to this population.
Autism, a type of brain development disorder characterized by social interaction and communication impairments, as well as repetitive behaviors, is a growing global concern. Currently, it affects approximately 2.8% of the world’s population, and understanding its underlying causes and treatments remains a challenge.
Remarkably, up to 30% of individuals with autism concurrently experience epilepsy symptoms. Furthermore, those with epilepsy are eight times more likely to be diagnosed with autism compared to the general population. Recognizing these shared characteristics, the research team hypothesized a potential genetic mechanism connecting these two conditions, as they share a significant proportion of genetic variations.
To test this hypothesis, the team utilized a mouse model lacking the ANK2 gene, which has been identified as a risk gene for both autism and epilepsy. The researchers observed that in ANK2-deficient mice, the excitability of neurons in the cerebral cortex was heightened. This was attributed to changes in the shape of the axon initiation segment in these neurons due to the absence of ANK2. Consequently, the activity of the potassium channel responsible for regulating neuron excitability decreased. Unsurprisingly, mice with a true ANK2 deficiency exhibited epileptic seizure symptoms and, in some cases, sudden death during adolescence.
Building upon these findings, the research team focused on targeting the potassium channel defect associated with ANK2 deficiency. Using a particular type of epilepsy treatment called ‘retigabine,’ they successfully enhanced the function of the potassium channel in ANK2-deficient mice. The results were remarkable, with the excitability of nerve cells restored to normal levels and a significant reduction in deaths related to epileptic seizures. This breakthrough suggests that activating potassium channels may be an effective approach for treating epilepsy caused by ANK2 deficiency.
Director Kim Eun-joon, the lead researcher, expressed his excitement about the study’s findings, stating, “Mutations in the ANK2 gene were found to increase neuronal excitability and cause autism-related epilepsy symptoms.” The research team’s groundbreaking study was published online in the esteemed international journal, Nature Communications.
This groundbreaking discovery offers hope for the millions of individuals worldwide affected by autism and epilepsy. By identifying a potential genetic link between the two conditions and exploring targeted drug treatments, this research paves the way for tailored therapies that could significantly improve the quality of life for individuals with these complex disorders.
Foundation for Basic Science
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A research team in Korea has suggested the possibility of an effective new drug treatment for epilepsy, a major comorbid symptom of autism.
The Institute for Basic Science (IBS) announced on the 28th that a research team led by Kim Eun-joon from the Brain Synaptic Disease Center identified a new pathogenesis of epilepsy, which occurs with high probability in autistic patients, and suggested the possibility of drug treatment based on it.
Autism is a type of brain development disorder that shows a lack of social interaction and communication, and repetitive behavior. The number of cases continues to increase worldwide, with autism now affecting approximately 2.8% of the world’s population. The clear pathogenesis and treatment have not yet been fully elucidated.
Alleviation of autism-related epilepsy symptoms by drug treatment. Provided by the Institute for Basic Science (IBS)
Autism is accompanied by several symptoms at the same time, and approximately 30% of patients are characterized by epilepsy symptoms. In addition, epilepsy patients are approximately eight times more likely to be diagnosed with autism than the general population.
Based on these facts, the research team addressed the possibility that the two diseases share a genetic mechanism. Indeed, autism and epilepsy share a significant proportion of genetic variation.
The research team revealed how epilepsy develops in a mouse model without the ‘ANK2’ gene, which is a risk gene for autism and has recently been identified as a risk gene for epilepsy. The research team first confirmed that the excitability of neurons in the cerebral cortex was increased in ANK2-deficient mice. It was confirmed that this was because the shape of the axon initiation segment of the cerebral cortical neurons changed due to the lack of ANK2, and accordingly, the amount and activity of the potassium channel that regulates the excitability of the neurons decreased. As a result of the analysis, mice with a true ANK2 deficiency showed symptoms of epileptic seizures. Mice have also been observed to die suddenly during adolescence accompanied by seizures.
Based on the newly discovered pathogenesis, the research team strengthened the function of the potassium channel in ANK2-deficient mice using ‘retigabine’, a type of epilepsy treatment. As a result, it was confirmed that the excitability of nerve cells was restored to normal levels and that deaths related to epileptic seizures were reduced. Activation of potassium channels could be effective in treating epilepsy caused by ANK2 deficiency.
Director Kim Eun-joon, who led the research, said, “Mutations in the ANK2 gene were found to increase neuronal excitability and cause autism-related epilepsy symptoms.” The results of the research were published online on the 15th in the international journal Nature Communications.
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