Article ID Journal Published Year Pages File Type
1971295 Clinical Biochemistry 2010 5 Pages PDF
Abstract

Objectives:Vitamin B12, or B12, is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B12 levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B12 participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776C > G polymorphism upon B12 intracellular delivery is a current target of research and we aimed to investigate its biochemical significance upon a healthy adult population.Design and methods:The TCN2 776C > G polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B12, holo-TC, total Hcy and folate, as well as red blood cell folate, were determined.Results and conclusions:The studied polymorphism is common in the Portuguese population and significantly affects holo-TC but neither total B12 nor total Hcy plasma concentrations, confirming that the TCN2 776C > G genotype exerts a significant influence upon B12 cellular delivery.

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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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