A worldwide genetic study has discovered 29 genes in DNA that increase the risk of developing epilepsy, a disease suffered by more than 50 million people, of whom almost a third are resistant to current drugs.
The findings of this research, published this Thursday in the scientific journal Nature Geneticswill allow progress towards new treatments for those who suffer from this brain disorder, behind which environmental and genetic factors underlie, which sometimes make it a hereditary disease.
To advance towards a better genetic knowledge of epilepsy, this study has been carried out with large-scale data in which 150 scientists from Europe, Australia, Asia and America have collaborated. Researchers have compared the DNA of nearly 30,000 people with different types of epilepsy with the DNA of 52,500 people without epilepsy.
Identify genetic alterations to improve diagnosis
The differences found point to 26 regions of the genome that could be involved in the development of epilepsy, including 19 specific to a type of epilepsy known as “genetic generalized epilepsy,” as well as 29 risk genes within those 26 areas.
Scientists also see significant genetic differences between generalized and focal epilepsy, which could indicate that the proteins carried by the electrical impulse by which neurons communicate are related to types of generalized epilepsy.
“A better understanding of the genetic foundations of epilepsy will help us develop new therapeutic options and, consequently, improve the quality of life of patients,” says Gianpiero Cavalleri, Professor of Human Genetics and Associate Director of the Research Center in a statement. FutureNeuro from the Science Foundation of Ireland (SFI), funder of the study.
Researchers have also shown that many of the current epilepsy treatments already target risk genes, while others have been proposed, currently in use for other conditions, and may potentially be effective for the discovered genes, once tested. clinically.
In addition, “this identification of genetic alterations associated with epilepsy will improve the diagnosis and classification of the different subtypes, and will guide clinicians in the selection of the most beneficial treatment strategies to minimize seizures,” said Professor Colin Doherty. , neurologist, co-author and clinical investigator at the SFI FutureNeuro.
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