Karg E, Németh I, Horányi M, Pintér S, Vécsei L, Hollán S
Department of Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary.
Blood Cells Mol Dis. 2000 Feb;26(1):91-100. doi: 10.1006/bcmd.2000.0280.
The glutathione redox system and alpha-tocopherol, both of which are essential for maintaining the normal structure of biological membranes, some other lipid-soluble antioxidants (lycopene, beta-carotene, retinol), and lipid peroxidation, were investigated in the blood from two triosephosphate isomerase (TPI)-deficient brothers. Both of the genetically identical compound heterozygote brothers have congenital hemolytic anemia, but only one of them has a neurological defect, the second cardinal symptom of TPI deficiency. Whole blood reduced glutathione levels were markedly decreased in both brothers. The glutathione reductase activities as well as the NADPH contents of their erythrocytes were in the normal range or slightly enhanced. Increased ratio of oxidized/reduced glutathione, elevated glutathione S-transferase activity, and increased d-lactate level, a metabolite of the glyoxalase pathway, were detected only in the neurologically affected propositus. The plasma carotenoids (lycopene + beta-carotene), alpha-tocopherol/cholesterol + triglyceride ratios, and the erythrocyte alpha-tocopherol levels were significantly decreased in both patients. It seems conceivable that membrane alterations due to the low level of these reducing agents may contribute to the shortened life span of erythrocytes. The imbalance of the prooxidant/antioxidant homeostasis as well as the increased rate of methylglyoxal formation may also have been involved in the development of the neurological manifestations in the propositus.
谷胱甘肽氧化还原系统和α-生育酚对维持生物膜的正常结构至关重要，还对其他一些脂溶性抗氧化剂（番茄红素、β-胡萝卜素、视黄醇）以及脂质过氧化进行了研究，样本来自两名磷酸丙糖异构酶（TPI）缺乏症的兄弟的血液。这两名基因相同的复合杂合子兄弟都患有先天性溶血性贫血，但只有其中一人有神经缺陷，这是TPI缺乏症的第二个主要症状。两名兄弟的全血还原型谷胱甘肽水平均显著降低。他们红细胞的谷胱甘肽还原酶活性以及NADPH含量均在正常范围内或略有升高。仅在患有神经疾病的先证者中检测到氧化型/还原型谷胱甘肽比例增加、谷胱甘肽S-转移酶活性升高以及乙二醛酶途径的代谢产物d-乳酸水平升高。两名患者的血浆类胡萝卜素（番茄红素+β-胡萝卜素）、α-生育酚/胆固醇+甘油三酯比例以及红细胞α-生育酚水平均显著降低。可以想象，由于这些还原剂水平较低导致的膜改变可能导致红细胞寿命缩短。促氧化剂/抗氧化剂稳态失衡以及甲基乙二醛生成速率增加也可能与先证者神经症状的发展有关。
