A team from the Príncipe Felipe Research Center (CIPF) has generated and modified a fruit fly model in the laboratory to characterize it with genetics, neurobiology and physiology similar to that of patients with Dravet Syndrome (DS), an epilepsy rare and serious infantile. It is a new way to investigate the process that triggers the disease and to search for new treatments, biomarkers or genetic modifiers.
The team, led by Máximo Ibo Galindo, researcher at the Joint Unit UPV-CIPF Developmental Biology and Disease Models, has deactivated a gene in the research model (the fruit fly) in order to study Dravet Syndrome, a Childhood neurological disease that causes uncontrolled seizures, severe cognitive and behavioral disturbances, and has one of the highest mortality rates among the epileptic syndromes.
The flies with the gene inactivated in the laboratory present symptoms reminiscent of those suffered by boys and girls with this rare type of epilepsy: seizures, neuromuscular, behavioral and learning defects. Flies also suffer from nerve and other disturbances consistent with Dravet Syndrome and other forms of epilepsy.
“In addition to seizures, we have observed neuromuscular alterations in the climbing, flight and gait tests, and also some cognitive alterations, such as anxiety and learning problems,” says the researcher.
Galindo and his team have analyzed the heads of the flies and have detected, among other things, an increase in the substance that sends messages to the central nervous system (Gaba), which is the main neurotransmitter involved in Dravet syndrome.
The next goal is to use this new model to develop new personalized treatments for the disease.
The project is funded by the ApoyoDravet association, which has collaborated with the Galindo group since 2016. The research is also funded by the Conselleria de Sanidad Universal y Salud Pública through the Prometeo program. In addition, part of the equipment used at work is financed by the Generalitat Valenciana and co-financed with Feder Funds (Valencian Community Operational Program 2014-2020).