ABCMdb

PMID: 24532752

Lane MA, Doe SJ
A new era in the treatment of cystic fibrosis.
Clin Med (Lond). 2014 Feb;14(1):76-8. doi: 10.7861/clinmedicine.14-1-76., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Gly542* Mutations in the gene encoding the protein CFTR can be divided into five categories on the basis of the effect they have on protein synthesis:6 > Class I defects (eg G542X) disrupt synthesis of CFTR and include nonsense and frameshift mutations that lead to premature termination codons (PTCs) and a lack of protein production. Login to comment 10 ABCC7 p.Gly551Asp > Class III defects (eg G551D) result in CFTR that reaches the apical membrane but is not activated and is therefore nonfunctional. Login to comment 11 ABCC7 p.Arg117His > Class IV defects (eg R117H) result in reduced conductance of CFTR at the cell surface. Login to comment 12 ABCC7 p.Ala455Glu > Class V defects (eg A455E) result in overall reduced synthesis of normal CFTR. Login to comment 39 ABCC7 p.Gly551Asp Class III defects The class III mutation G551D accounts for about 5% of all CF mutations. Login to comment 40 ABCC7 p.Gly551Asp Ivacaftor 'potentiates` CFTR in patients with the G551D mutation, increasing the amount of time the chloride Fig. 1 The cystic fibrosis (CF) gene encodes for a protein, CF transmembrane conductance regulator (CFTR), which is trafficked through the cell and inserted into the apical membrane, where it functions as a chloride channel. Login to comment 48 ABCC7 p.Arg117His Class IV defects Ivacaftor is also being studied in patients with the class IV defect R117H. Login to comment