Researchers closer to understanding the mechanism behind North Sea Progressive Myoclonus Epilepsy

For the first time, researchers have identified a specific type of cells in the brain that could be involved the mechanism of North Sea Progressive Myoclonus Epilepsy (NSPME). Research with fruit flies clearly reveals that glia cells in the brain are responsible for the epileptic seizures caused by this condition. The NSPME research group working at the interdisciplinary Movement Disorders Groningen expertise centre at the University Medical Center Groningen (UMCG) have published an article on the subject in the scientific journal Neuroscience.

For the purposes of this research, patient symptoms were used to obtain more information about NSPME by studying fruit flies. Interviews with various patients suffering from the condition showed heat to be an important factor in exacerbating the seizures and muscle jerks (myoclonus). This was also the case in fruit flies in which the same gene is affected as in patients with NSPME. Follow-up research with these fruit flies then revealed which brain cells were responsible for the development of seizures. As this important discovery provides a clue to understanding the mechanism behind the epilepsy and seizures, it may be a first major step towards developing better treatment.

Very little is known about North Sea Progressive Myoclonus Epilepsy. Patients suffer increasingly from coordination problems and severe muscle jerks (myoclonus) and epilepsy. Many of them have to rely on a wheelchair from around puberty onwards. Research to find better treatment options is in full swing. At present, researchers are examining the impact that a wide range of various drugs and other substances have on the symptoms in fruit flies with NSPME. It is hoped that this follow-up research, which is being funded by the NSPME foundation, will soon lead to drugs that can be used to treat patients more effectively.

The research findings also show how useful fruit flies can be in scientific research, and that pooling knowledge from fundamental and clinical research is a valuable asset in understanding the mechanism of this disease.

The Dutch national news have reported on these research findings during their news report on the 28th of November 2019, and the tv channels Omrop Fryslân and RTV Noord made a documentary about the findings:

+ link to the publication in Neuroscience: