Int J Biochem Cell Biol. 2014 Apr 13. pii: S1357-2725(14)00121-6. doi: 10.1016/j.biocel.2014.04.006. [Epub ahead of print]

Cystic fibrosis, a multi-systemic mucosal disease: 25 years after the discovery of CFTR.

Edelman A1, Sallenave JM2.

Author information

• 1INSERM, U1151, Paris, France; Faculté de Médecine, Université Paris Descartes, Paris, France.
• 2INSERM, UMR1152, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address: jean-michel.sallenave@pasteur.fr.

"2014 marks the 25th anniversary of the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, both a timely and relevant event to dedicate a Directed Issue to this disease. Given some of the recent therapeutic developments (see below), this is indeed an exciting time to revisit some of the history behind the discovery of this gene, as well as the developments in the understanding of the biochemical, cellular and physiological mechanisms underlying CFTR function, in health and disease.

The CFTR gene, when mutated, can cause the deadly cystic fibrosis (CF) disease, which first description was made in the Middle Ages, with the realization that the ‘child will soon die whose forehead tastes salty when kissed’. Following these early days, the first proper description of the disease was done in 1606 by the Spanish Professor of Medicine Juan Alonso y de los Ruyzes de Fontecha."