Table 1.
Effect of IFG tartrate on N370S and L444P GCase activity in lysates from Gaucher patient-derived fibroblasts and LCLs.
| Cell ID | Mutation | Cell Type | GCase Activity | ||||
|---|---|---|---|---|---|---|---|
| Baseline nmol/mg/hour | IFG tartrate - μM (% increase) | n | |||||
| 6 | 20 | 60 | |||||
| DMN89.45 | N370S | F | 4.0±0.3 | 35±2 | 95±1 | 115±3 | 3 |
| GM07968 | L444P | F | 0.2±0.03 | 15±10 | 30±10 | 17±7 | 3 |
| GM00877 | L444P | F | 1.0±0.1 | 25±5 | 30±4 | 17±7 | 3 |
| GM10915 | L444P | F | 3.0±0.04 | 25±5 | 30±4 | 16±7 | 3 |
| GM08760 | L444P | F | 2.3±0.1 | 20±10 | 20±10 | 15±5 | 3 |
| GS0501 | L444P | L | 3.1±0.2 | 227±23 | 251±15 | 146±28 | 3 |
| GS0505 | L444P | L | 0.4±0.1 | 220±18 | 232±27 | 124±13 | 3 |
| GS0502 | L444P | L | 0.8±0.2 | 120±14 | 150±15 | 134±19 | 6 |
| GS0503 | L444P | L | 0.7±0.1 | 141±14 | 146±24 | 124±13 | 6 |
| GS0504 | L444P | L | 0.7±0.2 | 129±28 | 152±34 | 129±32 | 6 |
GCase activity in cell lysates was determined after five-day incubation of Gaucher fibroblasts or LCLs with the indicated concentrations of IFG tartrate. The GCase activity in fibroblasts derived from three different healthy volunteers (CRL1509, CRL2076, and CRL2097) was 25±2, 30±0.9, and 16±1.0 nmol/mg protein/hour, respectively. The average GCase activity in LCLs derived from two different healthy volunteers (GM02184 and GM03201) was 15±4 nmol/mg protein/hour. All cell lines were homozygous for the specified GCase mutations. The data for each cell line have been normalized to the GCase activity in untreated cells and are presented as the mean±SEM. ‘F’, fibroblast; ‘L’, lymphoblastoid cell line.