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, Marialuisa Melli

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)2941-2950
Number of pages10
JournalHuman Molecular Genetics
Volume11
Issue number23
Publication statusPublished - Nov 1 2002

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Giaimo, R. D., Riccio, M., Santi, S., Galeotti, C., Ambrosetti, D. C., & Melli, M. (2002). New insights into the molecular basis of progressive myoclonus epilepsy: A multiprotein complex with cystatin B. Human Molecular Genetics, 11(23), 2941-2950.