Deterioration of the transcriptional, splicing and elongation machinery in brain of fetal Down Syndrome

  • M. Freidl
  • T. Gulesserian
  • G. Lubec
  • M. Fountoulakis
  • B. Lubec


Perturbation of brain development i.e. regulation of gene expression, differentiation, growth and migration in Down Syndrome (DS) has been reported to occur early in life pointing to impairment of the complex system of transcription and or translation and indeed, altered expression of transcription factors has been reported in adult DS brain. We therefore decided to compare the transcriptional and translational machinery in cortex of brains of controls and fetuses with Down syndrome in the second trimenon of gestation. We determined a series of transcription/translation factors by 2 D-electrophoresis followed by MALDI — identification and quantification with specific software.


Down Syndrome Elongation Factor Proto Oncogene Down Syndrome Brain P13639 Elongation Factor 
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Copyright information

© Springer-Verlag/Wien 2001

Authors and Affiliations

  • M. Freidl
    • 1
  • T. Gulesserian
    • 1
  • G. Lubec
    • 1
  • M. Fountoulakis
    • 2
  • B. Lubec
    • 3
  1. 1.Department of PediatricsUniversity of ViennaViennaAustria
  2. 2.Gene TechnologiesCNS ResearchBasleSwitzerland
  3. 3.Department of NeonatologyUniversity of ViennaViennaAustria

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