TABLE II. Summary of Biochemical Rescue in PBD Patient Fibroblast Cultures.
| Culture | Treatment | Evidence of biochemical rescuea | |||||
|---|---|---|---|---|---|---|---|
| C16:0 DMA | C16:0 DMA | C18:0 DMA | C18:0 DMA | VLCFA | VLCFA | ||
| 3 daysb | 10 daysb | 3 daysb | 10 daysb | 3 daysc | 10 daysc | ||
| A | 5 μg/ml G418 | - - | +++ | - - | +++ | - - | +++ |
| A | 10 μg/ml G418 | - | +++ | + | +++ | - | +++ |
| A | 100 μM PTC124 | - - | - | - - | - - | - - | - |
| A | 250 μM PTC124 | - - | + | - | - - | - | - |
| C | 5 μg/ml G418 | - - | +++ | - - | +++ | - - | ++ |
| C | 10 μg/ml G418 | - - | +++ | - - | +++ | - | ++ |
| C | 100 μM PTC124 | - - | - | - - | - | - | - |
| C | 250 μM PTC124 | - - | - - | - - | - - | - | - |
| D | 5 μg/ml G418 | - - | - - | - - | - - | - - | - |
| D | 10 μg/ml G418 | - - | - - | - - | - - | - - | - |
| E | 5 μg/ml G418 | - - | - - | - - | - - | NA | NA |
| E | 10 μg/ml G418 | - - | - | - - | - | NA | NA |
| E | 100 μM PTC124 | - - | - - | - - | - - | NA | NA |
| G | 5 μg/ml G418 | - - | + | - - | ++ | - - | ++ |
| G | 10 μg/ml G418 | - - | + | - | ++ | - - | +++ |
| G | 100 μM PTC124 | - - | - - | - - | - | - - | - - |
| G | 250 μM PTC124 | - - | - - | - - | - - | - - | - |
a
All samples were treated with drug or vehicle controls for three and ten days in triplicate.
b
Designated DMA levels are >75% (+++), 50-75% (++), 25-50% (+), or <25% (-) of drug-treated healthy control with P < 0.01. ‘- -’ indicates P > 0.01. P-values are calculated based on a two-tailed Student's t-test.
c
C26:0/C22:0 ratio is 2-3 fold (+++), 3-4 fold (++), 4-5 fold (+), or >5 fold (-) elevated relative to drug-treated healthy control with P < 0.01. ‘- -’ indicates P > 0.01. ‘NA’ indicates not applicable as PEX7 mutants are expected to show similar VLCFA ratios relative to healthy controls.