Advances in Down Syndrome Research

Volume 67 of the series Journal of Neural Transmission Supplement 67 pp 95-103

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

  • G. LubecAffiliated withDepartment of Pediatrics, University of ViennaCChem, FRSC (UK), Department of Pediatrics, University of Vienna
  • , M. BajoAffiliated withDepartment of Pediatrics, University of ViennaInstitute of Neuroimmunology of SAS
  • , M. S. CheonAffiliated withDepartment of Pediatrics, University of Vienna
  • , H. BajovaAffiliated withDepartment of Pediatrics, University of Vienna
  • , L. H. MatherlyAffiliated withDepartment of Pharmacology, Karmanos Cancer Institute, Wayne State University School of Medicine

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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.