Table IV.
Fibroblast cell lines with relative increases of residual Hex A activity in the presence of PYR and NGT.
| Patient cell line numberA | Mutation 1 | Mutation 2 | % of residual Hex A | % of Hex A with PYR | % of Hex A with NGT |
|---|---|---|---|---|---|
| TSD or α-mutants |
HEXA mutations
|
||||
| 27989 | G269S | c.1278insTATC | 5.3 | 9.5 | 41.9 |
| 32540 | G269S | IV6+1G>A | 6.5 | 10.4 | 46.8 |
| 26649 | IVS9+1G>A | IVS8-7G>AB | 3.7 | 5.5 | -D |
| SD or β-mutants |
HEXB Mutations
|
||||
| 32045 | R505Q | IVS11+5G>AB | 4.2 | 15.5 | 19.3 |
| 39997 | R505Q | Δ16kb | 5.3 | 41.9 | 19.0 |
| 1303 | C137YB | C137YB | 1.3 | 6.1 | 6.2 |
| 30037 | G353RB | IVS12-26G>A | 3.5 | 5.2 | 5.6 |
| 32429 | T150PB | P417L | 2.6 | 7.0 | 5.4 |
| 3585 | Δ16kb | P417L | 3.6 | 5.8 | 5.4 |
| 2400 | P504S | Δ16kb | 12.7C | 23.1 | 59.7 |
A
Patients’ cell lines are labeled according to the storage number from our Tissue Culture laboratory.
B
Novel mutations.
C
βP504S mutation reduces the ability of residual Hex A to bind the GM2 ganglioside/Activator complex by 3-fold as previously described (23)□.
D
NGT failed to show any significant increases in either Hex A activity or α-mutant protein level (Fig. 6b).