ABCMdb

PMID: 16185859

Equi AC, Davies JC, Painter H, Hyde S, Bush A, Geddes DM, Alton EW
Exploring the mechanisms of macrolides in cystic fibrosis.
Respir Med. 2006 Apr;100(4):687-97. Epub 2005 Sep 26., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCC7 p.Gly551Asp ABCC7 p.Arg347Pro Four patients were homozygous for the DF508 mutation, 4 were compound heterozygotes (DF508/ R347P, DF508/ G551D, DF508/À, DF508/À) and one patient had no identifiable mutations. Login to comment 104 ABCC7 p.Gly551Asp ABCC7 p.Arg347Pro Patient (M/F) Age (years) FEV1/FVC(%) CFTR genotype Pre-treatment (mean V1-V3) Post-treatment (V4) 1 (M) 42 26/63 26/63 DF508/ R347P 2 (M) 26 54.5/79 61/95 DF508/ DF508 3 (F) 25 61.5/66 66/72 DF508/G551D 4 (M) 19 27/48 29/50 DF508/À 5 (M) 30 31/49 31/46 DF508/ DF508 6 (M) 30 38.5/72 46/83 DF508/ DF508 7 (F) 21 45/63 48/71 DF508/- 8 (M) 37 61/89 68/- DF508/ DF508 9 (M) 34 25/51 26/52 À/À ARTICLE IN PRESS -10 -14 -16 -12 -8 -6 -4 -2 0 2 4 ∆PDmV p=0.37 V1-3 vs V4 P=0.09 V1-3 vs V5 -8 -6 -4 -2 0 2 4 6 8 ∆PDmV p=0.2 V1-3 vs V4 P=0.06 V1-3 vs V5 -8 -6 -4 -2 0 2 4 6 8 10 ∆PDmV p=0.5 V1-3 vs V4 P=0.26 V1-3 vs V5 V1-3 V4 V5 V6 V1-3 V4 V5 V6 V1-3 V4 V5 V6 -10 (a) (b) (c) Figure 1 Nasal PD (a) Baseline measurements, (b) responses to amiloride, (c) responses to low chloride solution and isoproterenol. Login to comment 110 ABCC7 p.Gly551Asp However, 3 of the 9 patients demonstrated large (46-fold) increases in MDR mRNA, and in 2 of these (DF508/DF508 and DF508/G551D), similar increases were also observed for CFTR mRNA. Login to comment