Towards the pharmacogenomics of cystic fibrosis.
Cystic fibrosis (CF) is the most common lethal recessive genetic disease affecting children in Europe and the US. CF is a multiorgan disease and may present a variety of clinical symptoms, like chronic obstructive lung disease, exocrine pancreatic insufficiency (PI) and elevated sweat chloride concentration. CF mutations have also been found in other related clinical diseases such as congenital bilateral absence of the vas deferens (CBAVD), disseminated bronchiectasis and chronic pancreatitis. These clinical overlaps pose etiopathogenetic, diagnostic and therapeutic questions. Despite stunning advances in genomic technologies and drug discovery, drug therapy often improves disease symptoms but does not cure the disease. One of the main causes of this failure in CF cure may be attributable to genetic variability and to the scarce knowledge of CF biochemistry. Therefore, knowing the genotype of a patient might help improve drug efficacy, reduce toxicity and suggests innovative genomic-based therapy approaches.
Sangiuolo
Federica
F
Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, 00133 Roma, Italy.
D'Apice
Maria Rosaria
MR
Bruscia
Emanuela
E
Lucidi
Vincenzina
V
Novelli
Giuseppe
G
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D015316:Genetic Therapy; D023281:Genomics; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator