Epilepsies represent a serious medical and social problem. Defects in a cysteineproteinase inhibitor, cystitis B (CSTB) gene were found by one Contractor to be responsible for progressive cyclones epilepsy of Unverricht-Lundborg type (EPM1)-an autosomal recessive neurodegenerative disease. We will use in vitro and in vivo approaches to understand the mechanisms by which deficiency of CSTB leads to the human disease. The current hypothesis is that deficiency of CSTB promotes neuronal apoptosis. We will develop a diagnostic test based on CSTB protein detection that is faster, cheaper and more reliable than the current DNA-based test. Unravelling the role and mechanisms of CSTB in cell death will allow the development of new and improved treatments that would result in considerable progress in the management of EPM1 patients by improving the quality of life of the individuals concerned by delaying or preventing the onset of disease.
Funding SchemeCSC - Cost-sharing contracts
06099 Halle (Saale)