2023-09-01 08:44:05
in Silvia Turin
An international study coordinated by the League Against Epilepsy compared the DNA of 30,000 people. Identify specific areas that appear to be linked to the risk of developing the disease. New perspectives also for treatments
In a large genetic study carried out on patients with epilepsy, scientists have identified 29 genes implicated in the disease and 26 distinct areas of DNA that appear to be involved.
a breakthrough in understanding why epilepsy develops and could contribute to the study of new treatments for this condition. The research, just published in Nature Genetics by the International League Against Epilepsy, which includes scientists from FutureNeuro at the RCSI University of Medicine and Health Sciences in Dublin, compared the DNA of nearly 30,000 people with epilepsy with the DNA of 52,500 people without the disease. The differences served to understand which areas of our generic code might be involved in the development of the disorder.
The aim is to improve understanding of the genetic basis of epilepsy, an important factor in developing new therapeutic options. The analysis showed that the genetic pictures are different according to the distinct types of epilepsy (there are about thirty divided according to the ILAE classification into four groups). The findings also suggested a role for proteins that carry electrical impulses across the spaces between neurons in the development of the disorder.
In retrospect, scientists have found that many of the current epilepsy drugs work by targeting the same risk genes highlighted in the study and have been able to propose some potentially effective alternative drugs that will need to be tested clinically, but would be new weapons against epilepsy as they are used for other diseases.
50 million people in the world live with this pathology, also for these numbers the study was international: conducted by over 150 researchers from Europe, Australia, Asia, South America and North America.
Epilepsy has a genetic component, but this is not the only cause-risk factor for the development of the disease: the variables include brain damage that occurred before or immediately after birth, brain malformations, infectious diseases of the nervous system ( encephalitis, meningitis, hydrocephalus), head injuries, brain tumors and strokes.
Most epilepsies can be treated with non-pharmacological adjuvant treatments and with many drugs (from the old gardenale to the more recent cenobamate), which allow seizures to be avoided or to reduce their frequency and intensity.
September 1, 2023 (change September 1, 2023 | 08:43)
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