Deficiency of chaperonin 60 in Down's syndrome

Peter Bozner, G. Lee Wilson, Nadya M. Druzhyna, Tara K. Bryant-Thomas, Susan P. LeDoux, Glenn L. Wilson, Miguel A. Pappolla

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Patients with Down syndrome (DS) and Alzheimer's disease (AD) share a number of characteristic neuropathologic lesions. Several lines of evidence suggest that mitochondria and the oxidative stress response are involved in the pathogenesis of both conditions. In the process of investigating the stress response in DS, we discovered a defective basal expression of a major mitochondrial heat shock protein, chaperonin 60 (Cpn60) in non-transformed dermal fibroblast cell lines from DS individuals. Such a defect was not present in control cells that had been cultured under identical physiological growth conditions. A quantitative analysis by Western blots showed a marked reduction of Cpn60 per equal amount of total protein in DS cells to an average of 35% of normal. Northern blot studies confirmed the defect and also showed a marked reduction of the mRNA signal for Cpn60 in all the DS cell lines. To gain further information, experiments were conducted to study the rate of de-novo synth esis of Cpn60 at normal and supraoptimal temperatures in DS and controls. Results showed no significant differences between the two study groups. HSP60 is important in mitochondrial function and defects in these organelles have been reported in DS and AD. Thus, the findings may have potential implications in the neuropathology of DS.

Original languageEnglish (US)
Pages (from-to)479-486
Number of pages8
JournalJournal of Alzheimer's Disease
Issue number6
StatePublished - Dec 2002
Externally publishedYes


  • Chaperonin 60
  • Down's syndrome
  • Heat shock protein 60
  • Heat shock proteins
  • Trisomy 21

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology


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