ABCMdb

PMID: 26547591

Tsabari R, Elyashar HI, Cymberknowh MC, Breuer O, Armoni S, Livnat G, Kerem E, Zangen DH
CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation.
J Cyst Fibros. 2015 Nov 4. pii: S1569-1993(15)00255-6. doi: 10.1016/j.jcf.2015.10.012., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Ser549Arg Methods: A standard OGTT was performed before and after 16 weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. Login to comment 58 ABCC7 p.Trp1282* ABCC7 p.Ser549Arg Further support for our observation is based on an additional case at another CF center where a 13.5 y girl with CF (W1282X/S549R) and BMI of 24.4 was diagnosed with CFRD based on blood glucose level of 206 mg/dl at 120 min during OGTT. Login to comment 61 ABCC7 p.Gly551Asp A recent pilot study on CF patients with another gating mutation (G551D) demonstrated that one month treatment of ivacaftor may have generally improved the total insulin secretion capacity of their pancreatic beta cells [7]. Login to comment 66 ABCC7 p.Ser549Arg Improving this specific parameter in the S549R mutation may account for the improvement of the OGTT which may slow down the pathophysiologic cascade leading to overt CFRD. Login to comment 70 ABCC7 p.Ser549Arg The insulin secretion in response to ivacaftor enables early phase insulin action and early normalization or improvement of the OGTT in patients with CFRD In conclusion, we describe the beneficial effect of 4 month ivacaftor treatment on the pathologic OGTT of 2 patients with CF carrying the S549R gating mutation. Login to comment