Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3

M. P. Zijlstra, M. A. Rujano, M. A. Van Waarde, E. Vis, E. R. Brunt, H. H. Kampinga*

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    30 Citaten (Scopus)


    In polyglutamine disorders, the length of the expanded CAG repeat shows a strong inverse correlation with the age at disease onset, yet up to 50% of the variation in age of onset is determined by other additional factors. Here, we investigated whether variations in the expression of heat shock proteins (HSP) are related to differences in the age of onset in patients with spinocerebellar ataxia (SCA)3. Hereto, we analysed the protein expression levels of HSPA1A (HSP70), HSPA8 (HSC70), DNAJB (HSP40) and HSPB1 (HSP27) in fibroblasts from patients and healthy controls. HSPB1 levels were significantly upregulated in fibroblasts from patients with SCA3, but without relation to age of onset. Exclusively for expression of DNAJB family members, a correlation was found with the age of onset independent of the length of the CAG repeat expansion. This indicates that DNAJB members might be contributors to the variation in age of onset and underlines the possible use of DNAJB proteins as therapeutic targets.

    Originele taal-2English
    Pagina's (van-tot)760-770
    Aantal pagina's11
    TijdschriftEuropean Journal of Neuroscience
    Nummer van het tijdschrift5
    StatusPublished - sep-2010

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