Abstract

The contents of homocysteine (HCy), cyanocobalamin (vitamin B12), folic acid (vitamin B9), and pyridoxine (vitamin B6) were analyzed and the genotypes of the main gene polymorphisms associated with folate metabolism (C677T and A1298C of the MTHFR gene, A2756G of the MTR gene and A66G of the MTRR gene) were determined in children at the onset of multiple sclerosis (MS) (with disease duration of no more than six months), healthy children under 18 years (control group), healthy adults without neurological pathology, adult patients with MS at the onset of disease, and adult patients with long-term MS. A significant increase in the HCy levels was found in children at the MS onset compared to healthy children of the corresponding age. It was established that the content of HCy in children has a high predictive value. At the same time, an increase in the HCy levels was not accompanied by the deficiency of vitamins B6, B9, and B12 in the blood. The lack of correlation between the laboratory signs of vitamin deficiency and HCy levels may be due to the polymorphic variants of folate cycle genes. An increased HCy level should be considered as a marker of functional disorders of folate metabolism accompanying the development of pathological process in pediatric MS. Our finding can be used to develop new approaches to the prevention of demyelination in children and treatment of pediatric MS.

中文翻译：

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早发性多发性硬化症中同型半胱氨酸水平升高与叶酸代谢受损和维生素 B 缺乏的关系

摘要

分析同型半胱氨酸（HCy）、氰钴胺（维生素B12）、叶酸（维生素B9）、吡哆醇（维生素B6）的含量，并分析与叶酸代谢相关的主要基因多态性（MTHFR基因的C677T和A1298C，在多发性硬化症（MS）发病时的儿童（病程不超过六个月）、18岁以下健康儿童（对照组）、未患多发性硬化症的健康成人中测定MTR基因的A2756G和MTRR基因的A66G ）。神经病理学、发病时患有多发性硬化症的成年患者以及患有长期多发性硬化症的成年患者。与相应年龄的健康儿童相比，MS 发病儿童的 HCy 水平显着升高。已证实HCy含量对儿童具有较高的预测价值。同时，HCy水平的升高并不伴随血液中维生素B6、B9和B12的缺乏。维生素缺乏的实验室症状与 HCy 水平之间缺乏相关性可能是由于叶酸循环基因的多态性变异造成的。 HCy 水平升高应被视为伴随儿科多发性硬化症病理过程发展的叶酸代谢功能障碍的标志。我们的发现可用于开发预防儿童脱髓鞘和治疗儿童多发性硬化症的新方法。