Kennedy A, Frank R N, Varma S D
Life Sci. 1983 Sep 26;33(13):1277-83. doi: 10.1016/0024-3205(83)90009-7.
When incubated in high galactose media, fibroblasts from individuals with the severe (Mediterranean) variety of glucose-6-phosphate dehydrogenase (G6PD) deficiency accumulate significantly less galactitol than do fibroblasts from matched control subjects. The effect is not observed in fibroblasts from black subjects with the more common, and milder, A- variant of G6PD deficiency. Since aldose reductase and sorbitol dehydrogenase activities in experimental and control fibroblasts are identical, the effect is most likely due to the substantial reduction in NADPH levels in severely G6PD-deficient cells. Sorbitol does not accumulate either in control or in G6PD deficient fibroblasts incubated in high glucose medium, most likely because of the action of sorbitol dehydrogenase, and the presence of a carrier-mediated glucose transport system in the cell membrane which limits the concentration of glucose that can accumulate in these cells.
在高半乳糖培养基中培养时,患有严重(地中海型)葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的个体的成纤维细胞积累的半乳糖醇明显少于匹配的对照受试者的成纤维细胞。在患有更常见、症状较轻的G6PD缺乏症A变体的黑人受试者的成纤维细胞中未观察到这种效应。由于实验性和对照性成纤维细胞中的醛糖还原酶和山梨醇脱氢酶活性相同,这种效应很可能是由于严重G6PD缺乏细胞中NADPH水平的大幅降低。在高葡萄糖培养基中培养的对照或G6PD缺乏的成纤维细胞中,山梨醇也不会积累,这很可能是由于山梨醇脱氢酶的作用,以及细胞膜中存在载体介导的葡萄糖转运系统,该系统限制了这些细胞中可积累的葡萄糖浓度。