"'Epilepsy' Causative Gene Detected by Spinal Injection Without Brain Surgery"

KAIST Professor Lee Jung-ho's Team Successfully Develops Technology to Detect in Cerebrospinal Fluid

Pathogenic mutations found in the cerebrospinal fluid of three patients through digital polymerase chain reaction. Photo by KAIST

[Asia Economy Reporter Kim Bong-su] A technology has been developed that can detect the causative gene of intractable epilepsy by collecting cerebrospinal fluid through spinal injections without performing surgery.

The Korea Advanced Institute of Science and Technology (KAIST) announced on the 26th that Professor Lee Jeong-ho's research team at the Graduate School of Medical Science and Engineering succeeded in detecting brain-specific somatic mutation genes of various intractable epilepsy patients in cerebrospinal fluid. Epilepsy, also known as 'ganjil,' refers to a disease in which generalized or partial seizures persist over a long period.

Until now, diagnosing intractable epilepsy required high costs and risky brain surgery. This disease mostly occurs due to somatic mutations that are locally specific to brain nerve cells during the disease process. Unlike other organs, the brain is blocked by the blood-brain barrier, so cell-free DNA containing pathogenic mutations cannot be detected in plasma. Therefore, patients with intractable epilepsy had to undergo brain surgery to remove the lesion area to identify the pathogenic mutations, and there had been no attempts to detect cell-free DNA through cerebrospinal fluid.

The research team focused on the possibility that pathogenic mutations exist even in trace amounts of cell-free DNA present in the cerebrospinal fluid of patients with intractable epilepsy. They purified and amplified the minute amounts of cell-free DNA from the cerebrospinal fluid of 12 intractable epilepsy patients and analyzed whether mutations previously detected in lesion areas were present using digital droplet PCR. As a result, pathogenic mutation genes were detected at an average of 0.57% in three patients with intractable epilepsy.

Se-yeon Kim, a combined master's and doctoral student and the first author of the paper, said, "Detection of causative genes for intractable epilepsy was only possible by obtaining tissue through surgery, but now mutations can be detected by collecting only cerebrospinal fluid. We hope this detection method will be used as a new diagnostic technique."

Based on this research, the team plans to develop diagnostic applications along with treatments for intractable epilepsy through a KAIST faculty startup company. The research results were published online on the 4th of last month in the international psychiatry journal Annals of Neurology.

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