Korede Abdullah in Lagos
A phenomenal study led by UTHealth Houston scientists has identified two genes associated with variants linked to epilepsy, offering new hope for diagnostic biomarkers and targeted therapies.
The research, published in Nature Communications, analysed data from 1,386 human brain tissues for somatic variants in individuals undergoing epilepsy surgery.
“For those with epilepsy, their caregivers, and health care providers, our research represents a step closer to understanding epilepsy at its most fundamental level while improving patients’ quality of life,” said Dennis Lal, PhD, director of the Center for Neurogenetics.
The study focused on somatic variants, DNA changes that occur after conception and can only be identified in brain tissue. By linking epilepsy to specific genetic mutations, the research provides a new framework for understanding the disorder and developing therapies that address its root causes.
According to the Centers for Disease Control and Prevention (CDC), epilepsy affects approximately 3.4 million people in the United States, with 1 in 3 patients struggling with drug-resistant forms of the condition.
The research team, led by Lal, identified two novel genes, DYRK1A and EGFR, and their genetic mutations linked to epileptic brain lesions.
The study also confirmed four well-established gene-disease associations and provided evidence for eight more.
These findings could offer long-awaited answers about what causes the condition in patients with a drug-resistant form of the disease, once brain tissue testing after surgery becomes clinically available outside of research.
The project also revealed that many genes identified with associated variants interact with biological pathways targeted by FDA-approved cancer drugs.
While epileptic lesions share genetic similarities with tumours, they differ in several key ways. Neurons, the affected cells in epilepsy, do not replicate like cancer cells, opening opportunities to repurpose existing cancer drugs for epilepsy treatment.
Lal emphasized the significance of the study, stating that it represents a crucial step towards understanding epilepsy at its most fundamental level.
The research has the potential to improve patients’ quality of life and offer new avenues for therapy. Co-authors of the study included researchers from Universitätsklinikum Tübingen, UTHealth Houston, the University of Washington, Universitätsklinikum Erlangen, and the Cleveland Clinic.
The discovery of the two genes associated with epilepsy variants marks a significant breakthrough in the field.
As researchers continue to build on this knowledge, they may uncover new opportunities for diagnosis, treatment, and improved patient outcomes.
