Abstract
Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of ∼ 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. 2004
| Original language | English |
|---|---|
| Pages (from-to) | 861-878 |
| Number of pages | 18 |
| Journal | Pharmacogenomics |
| Volume | 5 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Oct 2004 |
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Keywords
- Allelic heterogeneity
- CFTR mutations
- CFTR pathies
- Cystic fibrosis
- Gene therapy
- Genotype-phenotype correlation
- Modifier gene
- Neonatal screening
- Pharmacological approach
ASJC Scopus subject areas
- Pharmacology
- Genetics(clinical)
Cite this
Toward the pharmacogenomics of cystic fibrosis - An update. / Sangiuolo, Federica; D'Apice, Maria Rosaria; Gambardella, Stefano; Di Daniele, Nicola; Novelli, Giuseppe.
In: Pharmacogenomics, Vol. 5, No. 7, 10.2004, p. 861-878.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Toward the pharmacogenomics of cystic fibrosis - An update
AU - Sangiuolo, Federica
AU - D'Apice, Maria Rosaria
AU - Gambardella, Stefano
AU - Di Daniele, Nicola
AU - Novelli, Giuseppe
PY - 2004/10
Y1 - 2004/10
N2 - Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of ∼ 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. 2004
AB - Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of ∼ 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. 2004
KW - Allelic heterogeneity
KW - CFTR mutations
KW - CFTR pathies
KW - Cystic fibrosis
KW - Gene therapy
KW - Genotype-phenotype correlation
KW - Modifier gene
KW - Neonatal screening
KW - Pharmacological approach
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UR - http://www.scopus.com/inward/citedby.url?scp=6344289404&partnerID=8YFLogxK
U2 - 10.1517/14622416.5.7.861
DO - 10.1517/14622416.5.7.861
M3 - Article
C2 - 15469408
AN - SCOPUS:6344289404
VL - 5
SP - 861
EP - 878
JO - Pharmacogenomics
JF - Pharmacogenomics
SN - 1462-2416
IS - 7
ER -