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Human Molecular Genetics, 2002, Vol. 11, No. 23 2941-2950
© 2002 Oxford University Press

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B

Rossella Di Giaimo1,{dagger}, Massimo Riccio2, Spartaco Santi2, Cesira Galeotti3, Davide C. Ambrosetti1 and Marialuisa Melli1,*

1Department of Biology, Bologna University, 40126 Bologna, Italy, 2Istituto di Citomorfologia N.P., CNR, 40136 Bologna, Italy, and 3Chiron Vaccines, 53100 Siena, Italy

Received July 17, 2002; Accepted September 9, 2002

Cystatin B is an anti-proteolytic polypeptide implicated in progressive myoclonus epilepsy (EPM1), a degenerative disease of the central nervous system. The knock-out mouse model of the disease shows apoptosis of the cerebellar granule cells. We have identified five recombinant proteins interacting with cystatin B and none of them is a protease. We show that three of these proteins (RACK-1, ß-spectrin and NF-L) co-immunoprecipitate with cystatin B in rat cerebellum. Confocal immunofluorescence analysis shows that the same proteins are present in the granule cells of developing cerebellum, as well as in Purkinje cells of adult rat cerebellum. We propose that a cystatin B multiprotein complex has a specific cerebellar function and that the loss of this function might contribute to the disease in EPM1 patients.

* To whom correspondence should be addressed. Tel: +39 0512094146; Fax: +39 051251208; Email: melli{at}alma.unibo.it

{dagger} Present address: Department of Genetics and Molecular Biology at the Federico II University of Naples.Via Mezzocannone 8, 80134 Naples.


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