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Related Collections Red Cells Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 February 2001, Vol. 97, No. 4, pp. 1092-1098 RED CELLS Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood Farès Namour, Jean-Luc Olivier, Idrissia Abdelmouttaleb, Charles Adjalla, Renée Debard, Colette Salvat, and Jean-Louis Guéant From the Laboratoire de Pathologie Cellulaire et Moléculaire en Nutrition, INSERM 0014, Faculté de Médecine de Nancy, Vandoeuvre Cedex France; and Laboratoire de Biochimie, UPRES A 7079-CHU Saint-Antoine- 27, Paris, France. Transcobalamin (TC) is the plasma transporter that delivers vitamin B12 to cells. We have already reported that HT-29 and Caco-2 cells secrete different TC variants. HT-29 secretes 2 TC isoproteins (codon 259-Pro/Arg [259-P/R]), exhibiting unequal concentrations (TC 259-P > TC 259-R), and Caco-2 cells only secrete the phenotype 259-R. We investigated the relation between phenotypic and genetic TC polymorphism in HT-29 cells transfected with Caco-2 TC complementary DNA and in 159 healthy Caucasians. We found that codon 259-R is buried and, thus, the genetic polymorphism provides no explanation why the TCs from HT-29 and Caco-2 cells have different isoelectric points in nondenaturing isoelectric focusing (IEF). The newly translated TC in HT-29 cells from the Caco-2 complementary DNA recombinant plasmid had the same isoelectric point as the TC constitutively expressed in HT-29 cells, suggesting that TC phenotypic variability involves a specific cell folding of the protein. The codon 259 polymorphism was found to have a biallelic distribution: homozygotes P = 34.6%, heterozygotes R/P = 47.8%, and homozygotes R = 17.6%. In heterozygous samples, the IEF showed that the TC 259-P/TC 259-R ratio = 1.6. The blood apo-TC concentration of 259-P homozygous Caucasians was significantly higher than that of homozygous 259-R (P < .0001) and heterozygous (P < .0006) Caucasians. The heterozygotes 259-R/P had homocysteine concentration significantly higher than the homozygotes 259-R and 259-P (P = .02 and P = .01, respectively). In conclusion, TC codon-259 polymorphism affects TC plasma concentration and may interfere in vitamin B12 cellular availability and homocysteine metabolism. © 2001 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Letter in Blood Online: Transcobalamin polymorphism and homocysteine Andrew McCaddon, Kaj Blennow, Peter Hudson, Björn Regland, Diane Hill, Farès Namour, and Jean-Louis Guéant Blood 2001 98: 3497-3500. [Full Text] [PDF] This article has been cited by other articles: K. Meyer, A. Fredriksen, and P. 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	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020