The largest study of its kind has identified genes, gene clusters and gene variants that increase the risk of developing epilepsy. These findings will be vital for improving the diagnosis and treatment of one of the most common neurological diseases.
A collaboration between 40 research groups around the world has published the collected data on an interactive web portal for further analysis, Science Alert reports. A better understanding of the genes associated with epilepsy may allow for a more targeted investigation of the various mechanisms involved.
The research results are very useful for scientists; Because epilepsy may be very different among patients in terms of causes, severity and mode of occurrence, and this makes the study of the disease difficult.
“The prevalence of epilepsy is 4 to 10 per 1,000 people worldwide,” the researchers wrote in the published article. The role of genetic contribution in epilepsy has been known for a long time. However, delineating the broad spectrum of genetic effects on epilepsy remains an important challenge.”
A better understanding of the genes associated with epilepsy allows for a more targeted investigation of the mechanisms
The research team focused on exomes within DNA molecules, the parts of our genetic code that directly encode the amino acid sequences of proteins. Variations in these exomes generally play an important role in influencing disease risk, making exomes suitable for discovering potential links in epilepsy.
The researchers compared the genes of 20,979 people with epilepsy to those of 33,444 people without epilepsy through the process of whole-exome sequencing (WES), a detailed scan of DNA fragments most likely to be associated with the disease.
The researchers looked for extremely rare variants (URVs); That is, small changes in the coding of a gene that affect its production. If URVs are only present in people with epilepsy, it suggests that a series of variants contribute to our greater vulnerability to the disease.
The research team looked at seven specific genes, three sets of genes (combinations of genes), and four specific variants within genes, all of which held biological clues about how epilepsy occurs.
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The rare variants occur in genes closely related to neuron signaling and help keep electrical pathways in the brain at a healthy speed. It is logical that a disturbance in these areas may lead to seizures and other symptoms associated with epilepsy.
Comparing the results with other large-scale WES studies, the researchers also found strong evidence that rare variants that increase the risk of epilepsy overlap with others that increase the risk of other neurodevelopmental disorders.
With continued research, researchers can now explore therapeutic techniques that allow gene manipulation and potentially prevent disruption of the brain’s wiring and the onset of epilepsy.
“Continued genetic sequencing and characterization efforts, along with the ever-increasing scale of genetically related studies, will continue to expand and refine our understanding and hopefully enable a move toward more targeted therapeutic approaches,” the researchers write.
The research is published in Nature Neuroscience.
