title: Increased expression of human reduced folate carrier in fetal Down syndrome brain.
abstract: 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 150 kDa, whereas the other bands (MWs approximately 60 and 50 kDa), 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.
authors.affiliation: Department of Pediatrics, University of Vienna, Vienna, Austria. gert.lubec@akh-wien.ac.at
authors.forename: G
authors.initials: G
authors.lastname: Lubec
authors.forename: M
authors.initials: M
authors.lastname: Bajo
authors.forename: M S
authors.initials: MS
authors.lastname: Cheon
authors.forename: H
authors.initials: H
authors.lastname: Bajova
authors.forename: L H
authors.initials: LH
authors.lastname: Matherly
mesh_terms: D001921:Brain / Q000378:metabolism; D002540:Cerebral Cortex / Q000378:metabolism*; D004314:Down Syndrome / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005333:Fetus / Q000378:metabolism*; D005492:Folic Acid / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D006801:Humans; D026901:Membrane Transport Proteins / Q000096:biosynthesis* / Q000235:genetics; D058978:Reduced Folate Carrier Protein; D012044:Regression Analysis; D018709:Statistics, Nonparametric
chemical_list: D026901:Membrane Transport Proteins; D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human; D005492:Folic Acid