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Progressive myoclonic epilepsy and neuronal apotosis. a genetic, molecular biological, biochemical and pharmacological approach to cystatin b and cysteine proteases.

Objective

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.

Coordinator

UNIVERSITY OF KUOPIO
Address
9,Savilahdentie 9 G, 2Nd Floor
70210 Kuopio
Finland

Participants (6)

ISTITUTO NAZIONALE NEUROLOGICO 'CARLO BESTA'
Italy
Address
Via Celoria 11
20133 Milano
MARTIN-LUTHER-UNIVERSITAET HALLE-WITTENBERG
Germany
Address
Universitaetsplatz 10
06099 Halle (Saale)
UNIVERSITY OF HELSINKI
Finland
Address
3,Haartmaninkatu 3
00014 Helsinki
UNIVERSITY OF TARTU
Estonia
Address
Uelikooli Str. 18
EE-50090 Tartu
UNIVERSITY OF TURKU
Finland
Address
Kiinamyllynkatu 13
20014 Turku
UPPSALA UNIVERSITY
Sweden
Address
Sankt Olofsgatan 10 B
75105 Uppsala