Skip to main content

Research Repository

Advanced Search

Islet-intrinsic effects of CFTR mutation




Cystic fibrosis-related diabetes (CFRD) is the most significant extra-pulmonary comorbidity in cystic fibrosis (CF) patients, and accelerates lung decline. In addition to the traditional view that CFRD is a consequence of fibrotic destruction of the pancreas as a whole, emerging evidence may implicate a role for cystic fibrosis transmembrane-conductance regulator (CFTR) in the regulation of insulin secretion from the pancreatic islet. Impaired first-phase insulin responses and glucose homeostasis have also been reported in CF patients. CFTR expression in both human and mouse beta cells has been confirmed, and recent studies have shown differences in endocrine pancreatic morphology from birth in CF. Recent experimental evidence suggests that functional CFTR channels are required for insulin exocytosis and the regulation of membrane potential in the pancreatic beta cell, which may account for the impairments in insulin secretion observed in many CF patients. These novel insights suggest that the pathogenesis of CFRD is more complicated than originally thought, with implications for diabetes treatment and screening in the CF population. This review summarises recent emerging evidence in support of a primary role for endocrine pancreatic dysfunction in the development of CFRD.


Harper. (2016). Islet-intrinsic effects of CFTR mutation. Diabetologia, 1350-1355.

Acceptance Date Feb 26, 2016
Publication Date Mar 31, 2016
Journal Diabetologia
Print ISSN 0012-186X
Publisher Springer Verlag
Pages 1350-1355
Keywords beta cells; CFTR; cystic fibrosis; diabetes; endocrine; review
Publisher URL