Possible new treatment for epilepsy in the offing
Epileptic seizures can be suppressed by increasing the concentration of specific fats in the brain, a new study conducted on fruit flies suggests. Patrik Verstreken, professor at Katholieke Universiteit Leuven in Belgium focussed on synapses, the junctions between two nerve cells where electrical signals are transmitted. In various brain disorders – such as Parkinson’s disease – there is impaired communication at these synapses. Wim Versees, professor at Vrije Universiteit Brussel in Belgium examined the processes which take place in our cells, right down to the level of individual molecules and atoms. By figuring out the three-dimensional structures of protein molecules, he tried to obtain crucial information about their role in the cell and the mechanisms which underlie various disorders. In earlier research involving fruit flies, Verstreken had demonstrated that a protein known as ‘Skywalker’ plays a crucial role in maintaining communication between brain cells. An almost identical protein operates in the human brain under the name ‘TBC1D24’, researchers said. “Genetic mutations of the protein TBC1D24 cause a deviation known as the DOOR syndrome,” said Verstreken. “Alongside deafness, deformed nails, brittle bones and mental retardation, this serious genetic disorder is characterised by neurodegeneration, movement disorders and epilepsy,” he added. The scientists were able to figure out the three-dimensional structure of Skywalker, making it possible to study the protein in microscopic detail. “Looking at Skywalker in this way gave us completely new insights into the precise function of this protein, and therefore also the function of the human protein TBC1D24,” said Versees. “Among other things, we discovered that it connects with specific brain fats. And more importantly, this connection is impaired in over 70 per cent of patients with a TBC1D24 mutation,” he said. On the basis of this discovery, the scientists increased the concentration of specific brain fats in fruit flies with a Skywalker mutation. The epileptic seizures in the sick fruit flies were completely suppressed. “Our work shows that increasing specific brain fats at the synapses of patients with a TBC1D24 mutation is a possible strategy for preventing epileptic seizures,” said Verstreken. “And although our work focuses on people with TBC1D24 mutations, we think that our findings could be relevant to various forms of epilepsy,” added Verstreken. “Our two research groups will now continue to collaborate in order to seek out strategies for increasing the concentration of specific fats in the brain to prevent epileptic seizures,” said Versees. The research appears in the journal Nature Structural & Molecular Biology.
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