A recently released large-scale study has provided details on the genetics that underpin epilepsy, arguably one of the most common and most complex conditions in the neurological spectrum.
The work, aimed at the identification of individual genes, gene sets, and genetic variants associated with this disorder, holds hope for both diagnosis and therapeutic management.
Unmasking the Genetic Underpinnings of Epilepsy
The analysis of tens of thousands of individuals for an international collaboration of 40 research groups aims to pinpoint the genetic causes behind epilepsy. Science Alert reports that this will allow the researchers to understand the specific genes and variants involved, making it possible to focus on the mechanisms responsible for this disorder, making the treatment more personalized.
Epilepsy affects millions of people worldwide, and it is said that manifestations are quite variable from one individual to another. Its causes, severity, and symptoms vary, making the condition hard to study and treat. This groundbreaking research gives much-needed clarity to the genetic underpinnings of epilepsy.
It has been concentrating on exomes, the parts of DNA sequences that tell a human which proteins he or she must express. The significance of these exomes is that changes in them have been implicated as contributing to susceptibility to the disease under study.
From the technique of whole-exome sequencing (WES), researchers would look through these DNA sequences and find some genetic pointers to the cause of epilepsy.
This study compared the genes of 20,979 patients with epilepsy and 33,444 individuals without this condition to establish URVs. These genetic alterations could be few in size but significant because they may be predisposing individuals to epilepsy.
"Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide," the researchers wrote in their paper.
"The role of genetic contributions to epilepsy has been long recognized, yet delineating the full range of genetic effects on the epilepsies remains a core challenge," they added.
When these URVs occur alone in an individual with this condition, they may contribute to the cause of epilepsy.
Important Genetic Discovery in Epilepsy
Particularly seven genes, three sets of genes, and four genetic variants were identified to be associated with the condition. Findings such as these point out critical biological clues into how epilepsy roots in the brain.
Most of the genes identified are part of neuron signaling and maintaining healthy electrical pathways in the brain. When some of these areas are disrupted, it leads to seizures among other symptoms of epilepsy.
Probably the most relevant discovery of this work is the overlap between rare gene variants related to epilepsy with those found in other neurodevelopmental diseases. This discovery opens up new avenues for understanding the underlying shared mechanisms across conditions.
Better Treatment For Epilepsy
This study may indicate a better treatment for epilepsy in the future, as it highlights specific genes whose manipulation can eventually be useful in future therapies. Scientists might eventually even find ways to prevent the disruptions in the electrical pathways within the brain that actually trigger the condition and set it up for further development.
"The continued sequencing and genotyping efforts, coupled with the ever-increasing scale of genetic association studies will continue to enlarge and refine understanding... and hopefully enable a move toward more targeted treatment approaches," the researchers stated.
To view the full study, click here.
