Magnani M, Stocchi V, Novelli G, Dachà M, Fornaini G
Clin Physiol Biochem. 1987;5(1):9-14.
The specific activity of red blood cell glycolytic enzymes was determined in 20 Down's syndrome patients and compared with 20 normal controls. According to previous evidence, a 50% increase of phosphofructokinase and a 30% increase of glucose-6-phosphate dehydrogenase and glutathione peroxidase activity was found. Metabolic studies of the patients' erythrocytes revealed a decrease in fructose-6-phosphate and 2, 3-diphosphoglycerate concentrations, while fructose-1, 6-diphosphate and ADP both increased. Glucose utilization by intact erythrocytes from Down's syndrome patients did not differ from that of normal controls. However, addition of methylene blue or inorganic phosphate produced a higher stimulation of erythrocyte glycolysis in patients with Down's syndrome compared to controls. These metabolic abnormalities could be, at least in part, ascribed to the increased phosphofructokinase activity which is due to a gene-dosage effect.
测定了20例唐氏综合征患者红细胞糖酵解酶的比活性，并与20例正常对照进行比较。根据先前的证据，发现磷酸果糖激酶增加50%，葡萄糖-6-磷酸脱氢酶和谷胱甘肽过氧化物酶活性增加30%。对患者红细胞的代谢研究显示，6-磷酸果糖和2,3-二磷酸甘油酸浓度降低，而1,6-二磷酸果糖和ADP均增加。唐氏综合征患者完整红细胞的葡萄糖利用率与正常对照无差异。然而，与对照组相比，添加亚甲蓝或无机磷酸盐对唐氏综合征患者红细胞糖酵解的刺激作用更强。这些代谢异常至少部分可归因于由于基因剂量效应导致的磷酸果糖激酶活性增加。
