Brain Fats Help Mutated Protein Work to Stop Seizures in Fruit Fly Study

Brain Fats Help Mutated Protein Work to Stop Seizures in Fruit Fly Study

Epileptic seizures may be suppressed by increasing the concentration of specific fats in the brain, according to a study from the VIB–Flanders Interuniversity Institute for Biotechnology, in Belgium.

In the study, “Skywalker-TBC1D24 Has A Lipid-Binding Pocket Mutated In Epilepsy And Required For Synaptic Function,” published in the journal Nature Structural & Molecular Biology, researchers used fruit flies to study a protein called Skywalker, which plays an important role in maintaining communication between brain cells.

The human brain also has a protein — called TBC1D24 — with a similar function to that of Skywalker.

“Genetic mutations of the protein TBC1D24 cause a deviation known as the DOOR syndrome,” said Patrik Verstreken, PhD, a lead author of the study, in a news release. “Alongside deafness, deformed nails, brittle bones and mental retardation, this serious genetic disorder is characterized by neurodegeneration, movement disorders and epilepsy.”

By studying Skywalker, the team was able to understand several aspects about the protein in microscopic detail, gaining new insight into its function and, by extension, into the function of its human counterpart, TBC1D24. Among their observations was that Skywalker connects with specific brain fats, contributing to normal communication between neurons. According to the researchers, this connection is known to be impaired in more than 70 percent of patients with a mutation in TBC1D24.

If mutations in TBC1D24 are associated with epilepsy, what would happen in the fruit fly if Skywalker were mutated?

The team showed that the Skywalker mutation also disrupted neuronal communications, resulting in seizures. But Skywalker’s ability to bind to fats wasn’t totally destroyed by the mutation — rather, it was more limited. By increasing the concentration of specific fats at synapses in the brain of these flies, providing enough brain fats for Skywalker to bind with effectiveness, the scientists found a way to completely suppress their epileptic seizure.

“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,” Verstreken concluded. “And although our work focuses on people with TBC1D24 mutations, we think that our findings could be relevant to various forms of epilepsy.”

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Joana brings more than 8 years of academic research and experience as well as Scientific writing and editing to her role as a Science and Research writer. She also served as a Postdoctoral Researcher at the Center for Neuroscience and Cell Biology in Coimbra, Portugal, where she also received her PhD in Health Science and Technologies, with a specialty in Molecular and Cellular Biology.

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