Adana Ilinde CFTR
Gen Mutasyonlarinin Degerlendirilmesi.
The Clinical and Functional TRanslation of CFTR
Recently published early phase 2 clinical trial results of two new-generation, small-molecule CFTR
correctors, VX-445 and VX-659 in triple combination with tezacaftor and ivacaftor ('triple therapy'), show promising results in people with two copies of p.Phe508del.[12,13] None of these drugs are currently registered and licensed in SA, and until the cost (currently USD300 000 per annum) is substantially reduced, it is unlikely that medical schemes or the public health sector will fund these drugs in the near future.
Sample measurements above a defined cutoff are then followed up by genetic analysis to determine the presence of specific mutations in the CFTR
Immunofluorescence and confocal analysis on CFTR
were performed as established by us in a previous work on CFBE cells .
Novel mutations 754delT and GGTGGCdel/TTG ins: The novel mutation 754delT was discovered in exon 13 of the CFTR
Furthermore, ROS causes CFTR
dysfunction [2,25, 56], which we found to further exacerbate CS-induced autophagy impairment resulting in phagocytic defect.
Li et al., "Requirements for efficient correction of Deltaf508 CFTR
revealed by analyses of evolved sequences," Cell, vol.
: cystic fibrosis and beyond," European Respiratory Journal, vol.
It could be that a variant in another gene counteracts that specific mutation in the CFTR
Cystic fibrosis remains a clinical diagnosis when evidence of at least one phenotypic feature of the disease (table 1) exists in the presence of laboratory evidence of a CFTR
Genetic study for the evaluation of CFTR
gene might be also helpful to evaluate the presence of latent cystic fibrosis.