Effect of NaBu on G6PD gene expression and enzymatic activity in normal erythroid cells and in erythroid cells with different G6PD mutations
| G6PD . | Mutation(s) in exon(s) . | Amino acid change(s) . | NaBu-induced G6PD mRNA increase (fold; mean ± SEM) . | NaBu-induced G6PD protein increase (fold; mean ± SEM) . | G6PD activity (IU/mg protein; mean ± SEM) . | |
|---|---|---|---|---|---|---|
| −NaBu . | +NaBu . | |||||
| Normal PB (n = 3) | — | — | 4.4 ± 1* | 3 ± 0.21* | 229 ± 28 | 642 ± 70* |
| Normal CB (n = 3) | — | — | 3.1 ± 0.41* | 3 ± 0.81* | 270 ± 10.1 | 599 ± 25.9* |
| A− | 2, 5 | M68V, N126D | 15 | 3.6 | 105 | 353 |
| Med | 5 | S188F | 2.6 | 2.6 | 80 | 280 |
| Harilaou | 7 | F216L | 10 | 4.7 | 91 | 387 |
| Serres | 10 | A361V | 6.8 | 5.7 | 118 | 297 |
| Brighton | 13 | K497D | 3.3 | 4 | 98 | 306 |
| G6PD . | Mutation(s) in exon(s) . | Amino acid change(s) . | NaBu-induced G6PD mRNA increase (fold; mean ± SEM) . | NaBu-induced G6PD protein increase (fold; mean ± SEM) . | G6PD activity (IU/mg protein; mean ± SEM) . | |
|---|---|---|---|---|---|---|
| −NaBu . | +NaBu . | |||||
| Normal PB (n = 3) | — | — | 4.4 ± 1* | 3 ± 0.21* | 229 ± 28 | 642 ± 70* |
| Normal CB (n = 3) | — | — | 3.1 ± 0.41* | 3 ± 0.81* | 270 ± 10.1 | 599 ± 25.9* |
| A− | 2, 5 | M68V, N126D | 15 | 3.6 | 105 | 353 |
| Med | 5 | S188F | 2.6 | 2.6 | 80 | 280 |
| Harilaou | 7 | F216L | 10 | 4.7 | 91 | 387 |
| Serres | 10 | A361V | 6.8 | 5.7 | 118 | 297 |
| Brighton | 13 | K497D | 3.3 | 4 | 98 | 306 |
G6PD mRNA and protein levels and enzymatic activity in CB CD34+-derived, normal PB-derived, and G6PD-deficient peripheral blood mononuclear cell (PBMC)-derived erythroid precursors. Highly purified day 5 erythroid precursors derived in vitro from CB or PBMCs were treated with 1 mM NaBu or medium control for 48 hours.
P < .05.