November 20, 2023

Alternate Origin Discovered for Brain Mosaicism and Focal Epilepsy

Article published by Drug Target Review

Most people have the same genetic information in every cell of their body. However, during fetal development, two or more genetically diverse sets of cells can develop. These genetically diverse or ‘mosaic’ cells may cause disorders or diseases including epilepsy. Scientists have recently discovered an alternate origin of brain mosaicism in some children with focal epilepsy. The scientists performed a genetic analysis of brain tissue, blood and buccal cells (cells derived from the inside of the cheek). Tissue samples were taken from six patients, aged two months to seven months, who underwent epilepsy surgery. Analyses of the tissues showed that some of the cells in the brain tissue had extra copies of chromosome 1q compared to the normal tissue. The blood and buccal cells did not have any cells with extra copies of chromosome 1q. “This work is incredibly exciting for two reasons,” noted a study author. “First, it links a recently identified cause of epilepsy to a pathological finding, furthering our understanding of how chromosome 1q causes unrelenting seizures. Second, it opens the door to new mechanisms of how brain tissue may be impacted by genetic problems differently than the rest of the body. Now, we have to reconsider how we look at genetic causes of epilepsy.”