In Nature Genetics, researchers at the University of California and Rady Children’s Institute for Genomic Medicine explored the genetic causes of malformations of cortical development (MCD). MCD is often a target for epilepsy research.
The research involved the genetic landscape from 283 brain resections.
“Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy,” according to the journal report.
“Here we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing.”
In their research, 69 distinct genes carrying somatic brain mutations were established.
“The MCD genes in patient brains have demonstrated critical roles during cortical development. These findings could lead to new molecular classifications for MCD, and ultimately to personalized therapies for epilepsy,” said senior study author Joesph Gleeson in a news release.
