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PTC 124
- Question
- Is it true that PTC 124 is effective with class 1 mutations? That is, with the cftr dele2,3 mutation?
Thanks - Answer
- Hello,
in so-called stop mutations, PTC 124 causes the premature stop signal to be skipped and a regular sized CFTR protein can be built. Premature stop signals can occur for different reasons, mostly by the substitution of a single component of the CFTR gene (in the case of so-called nonsense mutations), but also by partial damage (deletions) or insertions. In these cases (nonsense mutations, deletions, insertions), many of the corresponding mutations can often be attributed to class 1, though not all of them. PTC 124 has shown promising results with certain nonsense mutations. Unfortunately, in the case of deletions or inserstions, PTC 124 is less likely to be effective. The CFTRdele2,3 (21kb) is a deletion in which the coding parts of exons 2 and 3 are missing. Unfortunately, one has to assume that PTC124 will not show any results here.
Kind regards
Prof. Stuhrmann-Spangenberg - 06.09.2010
