Increased expression of human reduced folate carrier in fetal Down syndrome brain

  • G. Lubec
  • M. Bajo
  • M. S. Cheon
  • H. Bajova
  • L. H. Matherly
Part of the Journal of Neural Transmission Supplement 67 book series (NEURAL SUPPL, volume 67)


Down syndrome (trisomy of chromosome 21) (DS) is the most common genetic cause of mental retardation. In our study we employed immunoblotting to evaluate protein expression of reduced folate carrier (hRFC), encoded by a gene localised on chromosome 21, in fetal DS brain. We observed increased expression of hRFC-immunoreactive band with an apparent MW of approximately 150kDa, whereas the other bands (MWs ∼60 and 50kDa), were comparable to control. In conclusion, we suggest that aberrant hRFC expression may well have a role in the already observed deterioration of folate metabolism in DS. Moreover, no alterations of expression level of p53 and Sp1, supposed to play a role in the regulation of hRFC, suggest that regulation of hRFC expression in fetal life by these proteins is highly unlikely, at least by changes in their protein level.


Down Syndrome Folate Metabolism Down Syndrome Patient Down Syndrome Individual Evaluate Protein Expression 
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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • G. Lubec
    • 1
    • 2
  • M. Bajo
    • 1
    • 3
  • M. S. Cheon
    • 1
  • H. Bajova
    • 1
  • L. H. Matherly
    • 4
  1. 1.Department of PediatricsUniversity of ViennaViennaAustria
  2. 2.CChem, FRSC (UK), Department of PediatricsUniversity of ViennaViennaAustria
  3. 3.Institute of Neuroimmunology of SASBratislavaSlovak Republic
  4. 4.Department of Pharmacology, Karmanos Cancer InstituteWayne State University School of MedicineDetroitUSA

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