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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.
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Related Letter in Blood Online:
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Transcobalamin polymorphism and homocysteine
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