Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down Syndrome

  • K. Krapfenbauer
  • B. Chul Yoo
  • N. Cairns
  • G. Lubec
Conference paper


Although gene hunting has been carried out in Down Syndrome (DS) cells, information on expressional differences in DS brain is limited. We have recently described expressional differences in fetal DS brain but cannot assign these findings to “DS per” se or simply to “neurodegeneration”.

We therefore performed gene hunting in cerebellum of adult patients with DS and Alzheimer’s disease (AD) neuropathology, AD and controls. The gene hunting method used was differential display and pools of the individual groups were examined to rule out allelic differences.

Differential display revealed the absence of a band, identified by sequencing and gene bank work as matching the NADH3 gene (99.1% identity) in cerebellum of DS patients. Dot blots showed the presence of NADH3 signals in only two out of 7 DS patients.

We show at the transcriptional level that a mitochondrial enzyme, the complex I, NADH3, is significantly downregulated in DS cerebellum. This extends previous work on deficiencies of the electron transport chain in platelets of patients with DS.


Down Syndrome Differential Display Down Syndrome Patient Expressional Difference NADH3 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Wien 1999

Authors and Affiliations

  • K. Krapfenbauer
    • 1
  • B. Chul Yoo
    • 1
  • N. Cairns
    • 2
  • G. Lubec
    • 1
  1. 1.Department of PediatricsUniversity of ViennaViennaAustria
  2. 2.Institute of Psychiatry, Department of Neuropathology, MRC Brain BankUniversity of LondonUK

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