Researchers have identified the origin of hereditary diseases such as epilepsy and other coordination disorders. These disorders are caused by changes in the nerve cells of the cerebellum, these changes do not set in until after birth.
The team of Prof. Dr. Stefan Herlitze, the Chair of the Department of Zoology and Neurobiology at RUB, showed that the diseases broke out in mice if, a week after birth, they eliminated a particular protein in the cerebellum which regulates the influx of ions into nerve cells.
"It's the first time that we have gained an insight into the origin of these diseases," said Herlitze.
Various forms of epilepsy, coordination disturbances (ataxias) and migraines are caused by mutations in the so-called P/Q-type calcium channel that controls the influx of calcium ions into the nerve cells of the brain. Melanie Mark from Herlitze's team developed an animal model in which this calcium channel could be deactivated at any time in a brain region of choice. The researchers focused on specific cells in the cerebellum (Purkinje cells) that coordinate the movements of the body.
"The calcium channel is actually present throughout the entire brain", explains Mark.
"It is the first time that we have been able to show that the diseases can be triggered by dysfunctional signal processing originating in the cerebellum."
With the aid of the new mouse model, the so-called Purky mouse, Herlitze's team is now investigating the molecular basis of the diseases caused by changes in the P/Q-type calcium channel, in order to develop new therapeutic approaches.
"We especially hope to help children suffering from absence epilepsy, i.e. epilepsy associated with a disturbance of consciousness", added Herlitze.
The study has been published in the Journal of Neuroscience.