Research Institute for Medicines and Pharmaceutical Sciences, University of Lisbon, Portugal.
Clin Biochem. 2010 May;43(7-8):645-9. doi: 10.1016/j.clinbiochem.2010.01.015. Epub 2010 Feb 6.
Vitamin B(12), or B(12), is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B(12) participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776CNG polymorphism upon B(12) intracellular delivery is a current target of research and we aimed to investigate its biochemical significance upon a healthy adult population.
The TCN2 776CNG polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B(12), holo-TC, total Hcy and folate, as well as red blood cell folate, were determined.
The studied polymorphism is common in the Portuguese population and significantly affects holo-TC but neither total B(12) nor total Hcy plasma concentrations, confirming that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery.
维生素 B(12),即 B(12),是人类必需的营养物质,其缺乏是一个公共卫生问题,尤其是在老年人群中。大约 30%的循环总 B(12)水平与转钴胺素 II(TCN2)结合,被称为全钴胺素(holo-TC),代表具有生物活性的部分。进入细胞后,B(12)参与同型半胱氨酸(Hcy)代谢。描述的 TCN2 776CNG 多态性对 B(12)细胞内传递的潜在影响是当前研究的目标,我们旨在调查其对健康成年人群的生化意义。
在 122 个人中通过 PCR-RFLP 筛选 TCN2 776CNG 多态性。测定血浆总 B(12)、全钴胺素、总 Hcy 和叶酸以及红细胞叶酸的浓度。
研究中的多态性在葡萄牙人群中很常见,显著影响全钴胺素,但对血浆总 B(12)和总 Hcy 浓度没有影响,证实 TCN2 776CNG 基因型对 B(12)细胞传递有显著影响。