Scientists at the University of Queensland have made an important discovery about severe infantile epilepsies, which, unexpectedly, links to Parkinson’s disease. The results are published in the Journal of Cell Biology.According to Professor Frédéric Meunier, Senior Author on the study, this discovery could open new avenues for the development of different classes of drugs to treat epilepsy.In a press release, Dr Emma Sierecki, Co-author, said: “This is the first time that a communal mode of action has been found for an epileptic syndrome and neurodegeneration.”Munc18-1 is a protein that plays an important role in the communication between neurons. The team used cellular and genetic techniques to show that faults in the Munc18-1 gene caused the protein to gather in lumps (aggregates).On further analysis, the researchers saw that these aggregates also contained another protein called α-Synuclein, a form of which is known to be involved in Parkinson’s diseases.In a separate part of the investigation, they showed that, whilst ‘healthy’ Munc-18 does bind α-Synuclein, it does not form these aggregates.“The unexpected co-aggregation of α-Synuclein and Munc18-1 in disease reveals how these two proteins function together,” added Dr Sierecki.The scientist wanted to find out what happened to both ‘healthy’ α-Synuclein and Parkinson’s-associated α-Synuclein, when healthy Munc18-1 was experimentally removed from the ‘system’. They discovered that, in both cases, the α-Synuclein became more likely to form aggregates, and that this effect was reversed when healthy Munc18-1 levels were restored.These findings suggest that they ‘healthy’ Munc18-1 protein functions as a chaperone/helper of α-Synuclein to protect neurons.It was already known that mutations in the Munc18-1 gene cause infantile epileptic encephalopathy, but to date the exact mechanism by which this happens was not fully understood. These findings reveal Munc18-1 as a potential new treatment focus for these devastating conditions.Author: Dr Özge ÖzkayaClick here for more articles about brain science including genetics.
ERUK Team2019-10-26T22:52:07+01:00September 7th, 2016|