Journal Article

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

Rossella Di Giaimo, Massimo Riccio, Spartaco Santi, Cesira Galeotti, Davide C. Ambrosetti and Marialuisa Melli

in Human Molecular Genetics

Volume 11, issue 23, pages 2941-2950
Published in print November 2002 | ISSN: 0964-6906
Published online November 2002 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/11.23.2941
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B

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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, β-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.

Journal Article.  7040 words.  Illustrated.

Subjects: Genetics and Genomics

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