Toward the pharmacogenomics of cystic fibrosis - An update

Federica Sangiuolo, Maria Rosaria D'Apice, Stefano Gambardella, Nicola Di Daniele, Giuseppe Novelli

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)861-878
Number of pages18
JournalPharmacogenomics
Volume5
Issue number7
DOIs
Publication statusPublished - Oct 2004

Fingerprint

Pharmacogenetics
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Therapy
Genes
Chloride Channels
Live Birth
Epithelial Cells
Pharmacology
Phenotype
Mutation
Therapeutics

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

Sangiuolo, F., D'Apice, M. R., Gambardella, S., Di Daniele, N., & Novelli, G. (2004). Toward the pharmacogenomics of cystic fibrosis - An update. Pharmacogenomics, 5(7), 861-878. https://doi.org/10.1517/14622416.5.7.861

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 journalArticle

Sangiuolo, F, D'Apice, MR, Gambardella, S, Di Daniele, N & Novelli, G 2004, 'Toward the pharmacogenomics of cystic fibrosis - An update', Pharmacogenomics, vol. 5, no. 7, pp. 861-878. https://doi.org/10.1517/14622416.5.7.861
Sangiuolo, Federica ; D'Apice, Maria Rosaria ; Gambardella, Stefano ; Di Daniele, Nicola ; Novelli, Giuseppe. / Toward the pharmacogenomics of cystic fibrosis - An update. In: Pharmacogenomics. 2004 ; Vol. 5, No. 7. pp. 861-878.
@article{76b7e21df4724ede9af374f1412761f9,
title = "Toward the pharmacogenomics of cystic fibrosis - An update",
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",
keywords = "Allelic heterogeneity, CFTR mutations, CFTR pathies, Cystic fibrosis, Gene therapy, Genotype-phenotype correlation, Modifier gene, Neonatal screening, Pharmacological approach",
author = "Federica Sangiuolo and D'Apice, {Maria Rosaria} and Stefano Gambardella and {Di Daniele}, Nicola and Giuseppe Novelli",
year = "2004",
month = "10",
doi = "10.1517/14622416.5.7.861",
language = "English",
volume = "5",
pages = "861--878",
journal = "Pharmacogenomics",
issn = "1462-2416",
publisher = "Future Medicine Ltd.",
number = "7",

}

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

UR - http://www.scopus.com/inward/record.url?scp=6344289404&partnerID=8YFLogxK

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 -