Scientists study fruit flies for clues on human epilepsy

Posted Mar 27 2014 in Brain science; genetics

Scientists from the University of Iowa are studying what fruit flies can tell us about myoclonic epilepsy in humans.

The project dates back four years, when lead researcher John Manak determined that insects of the drosophila genus are affected by mutations to the prickle gene – written PRICKLE in human subjects – that cause jerking movements in their wings and legs.

These are similar symptoms to those shown by patients with a form of myoclonic epilepsy that stems from the same genetic origin.

Later experiments overseen by Dr Manak revealed that valproic acid, a potent anticonvulsant, is equally as effective in flies with the prickle gene mutation as humans. This indicates that the pathway responsible for seizures has been conserved across both species.

The researchers’ more recent studies, set to be presented at the Genetics Society of America’s upcoming Drosophila Research Conference on March 29th, comprise a range of findings that could pave the way for better understanding of myoclonic epilepsy in humans caused by the PRICKLE gene mutation.

According to a statement issued yesterday (March 26th), the experiments have found that flies with the mutation, like humans, have a lower electrically-induced seizure threshold than flies without – a classic characteristic of epilepsy. Similarly, the mutant drosophila specimens showed higher neuronal activity following electric shock.

A further study has revealed that the flies commonly experience ataxia, or uncoordinated gait, much like their human counterparts. This is more severe when two prickle genes are mutated rather than just one, suggesting that the proteins expressed by the gene in normal circumstances play an important role in controlling seizures.

Finally, the researchers have identified the basic cellular mechanism that causes flies with the prickle gene mutation to experience jerking movements and seizures, which could conceivably be applied to human models.

“These data further underscore the striking parallels between the prickle-associated myoclonic epilepsy syndromes observed in flies and humans,” they said.

Posted by Steve Long

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