Toward the pharmacogenomics of cystic fibrosis--an update.
Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of approximately 1 in 3000 live births. The mutated gene is a defective chloride channel in epithelial cells, named cystic fibrosis transmembrane conductance regulator (CFTR). Several different protocols for the scanning of the entire gene have aided molecular diagnosis and improved our understanding of the disorder's pathophysiology, but also showed the disease's complexity. Therefore, CF phenotype remains difficult to predict from CFTR mutation data alone: several studies have suggested that additional genes could modulate its clinical outcome. Gene replacement therapy is still far from being used in patients with CF, mostly due to the difficulties with targeting the appropriate cells. In this review, we summarize recent advances, both in the pharmacological and gene therapy field, aimed for the treatment of the disease.
Sangiuolo
Federica
F
Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Roma, Italy.
D'Apice
Maria Rosaria
MR
Gambardella
Stefano
S
Di Daniele
Nicola
N
Novelli
Giuseppe
G
D003550:Cystic Fibrosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D010597:Pharmacogenetics / Q000379:methods*