Study: Potential Genetic Link Between Epilepsy, Neurodegenerative Disorders

A recent scientific discovery showed that mutations in prickle genes cause epilepsy; however, the mechanism responsible for generating prickle-associated seizures was unknown. A new University of Iowa study, recently published online in the Proceedings of the National Academy of Sciences, identified the basic cellular mechanism that goes awry in prickle mutant flies, leading to the epilepsy-like seizures. Researchers showed that seizure-prone prickle mutant flies have behavioral defects and electrophysiological defects similar to other fly mutants used to study seizures. The researchers also demonstrated that altering the balance of two forms of the prickle gene disrupts neural information flow and causes epilepsy. Further, they demonstrate that reducing either of two motor proteins responsible for directional movement of vesicles along tracks of structural proteins in axons can suppress the seizures. “This is to our knowledge the first direct genetic evidence demonstrating that mutations in the fly version of a known human epilepsy gene produce seizures through altered vesicle transport,” says senior author John Manak. This new epilepsy pathway was previously shown to be involved in neurodegenerative diseases, including Alzheimer’s and Parkinson’s. To learn more about the study, click here.