A team of scientists in 2020 figured out a critical step in how brain cells function in people with a common form of epilepsy. The scientists say their discovery could lead to the development of new treatment options for those with drug-resistant epilepsy.
Epilepsy in the U.S. and around the world
Epilepsy is widespread in the United States. In 2015, 1.5% of the population had active epilepsy – 3 million adults and 470,000 children. Worldwide, over 50 million people live with the condition, making it one of the most common neurological diseases.
The World Health Organization estimates that 70% of people living with epilepsy could go without seizures if they were to receive proper medical care. However, one-third of people with epilepsy do not respond to medication. Thus, the need for new therapies is substantial. The results of this study could pave the way for a new type of epilepsy treatment.
The study
Researchers have known for some time that changes in gene activity contribute to the onset of epilepsy. Technically speaking, a type of RNA (ribonucleic acid) called “messenger RNA” is generated during gene activity, leading to the production of proteins used for brain cells to work properly. The scientists doing this study, though, found out that a poly(A) tail is added to the messenger RNA during this process, something that has “never been studied before in epilepsy.”
Furthermore, the scientists saw that the addition of the poly(A) tail, a process called “polyadenylation,” was “dramatically altered” in one-third of an epilepsy sufferer’s genes, an alteration which led to a change in the brain’s protein production.
“Temporal lobe epilepsy is the most common and refractory form of epilepsy in adults. Gene expression within affected structures such as the hippocampus displays extensive dysregulation and is implicated as a central pathomechanism. Post-transcriptional mechanisms are increasingly recognized as determinants of the gene expression landscape, but key mechanisms remain unexplored,” wrote the team of researchers.
A new type of epilepsy treatment?
As the scientists were now able to better understand why gene activity is different in a person with epilepsy, they think that new, targeted treatments could be created with this in mind.
Tobias Engel, PhD, senior lecturer in the School of Physiology and Medical Physics at the Royal College of Surgeons (RCSI) in Dublin, Ireland, says future epilepsy treatments could even stop a person from developing the disease in the first place.
“It is remarkable that so many active genes in the brain show a change in this polyadenylation process. We believe that this could ultimately lead us to new targeted treatments, allowing us to investigate if we could stop a person from developing epilepsy,” said Engel.
To sum up
Researchers found that genes in people with epilepsy behave differently than in people without the condition. This discovery could potentially lead to the creation of novel therapies for drug-resistant epilepsy.