Title:Novel Personalised Drugs for Cystic Fibrosis
Volume: 3
Issue: 2
Author(s): Nicoletta Pedemonte and Luis J.V. Galietta*
Affiliation:
- U.O.C. Genetica Medica, Istituto Giannina Gaslini, via Gerolamo Gaslini 5, 16147 Genova,Italy
Keywords:
Cystic fibrosis, CFTR, personalized medicine, in vitro, CF mutations, CF patients.
Abstract: Cystic fibrosis (CF) is a multiorgan genetic disease caused by defective function of CFTR, a
plasma membrane chloride channel particularly expressed in epithelial cells. CF mutations have been
grouped in six classes according to the mechanism through which they affect CFTR function: premature
translation termination, impaired folding and stability, altered channel gating, reduced single channel
conductance, aberrant RNA splicing, reduced persistence on cell surface. Each type of CFTR defect can
be targeted by specific small molecules (correctors, potentiators, or readthrough agents) in order to restore
CFTR function. Novel in vitro assays, based on intestinal organoids or nasal epithelial cells, can
be used to identify the most appropriate treatment for each genotype. This approach paves the way for
the development of personalized treatments for CF patients.
