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Molecular Diagnosis & Therapy

Published in:

01-09-2006 | Genetic Disorders

Targeted Therapy for Cystic Fibrosis

Cystic Fibrosis Transmembrane Conductance Regulator Mutation-Specific Pharmacologic Strategies

Author: Dr Ronald C. Rubenstein

Published in: Molecular Diagnosis & Therapy | Issue 5/2006

Abstract

Cystic fibrosis (CF) results from the absence or dysfunction of a single protein, the CF transmembrane conductance regulator (CFTR). CFTR plays a critical role in the regulation of ion transport in a number of exocrine epithelia. Improvement or restoration of CFTR function, where it is deficient, should improve the CF phenotype. There are >1000 reported disease-causing mutations of the CFTR gene. Recent investigations have afforded a better understanding of the mechanism of dysfunction of many of these mutant CFTRs, and have allowed them to be classified according to their mechanism of dysfunction. These data, as well as an enhanced understanding of the role of CFTR in regulating epithelial ion transport, have led to the development of therapeutic strategies based on pharmacologic enhancement or repair of mutant CFTR dysfunction. The strategy, termed ‘protein repair therapy’, is aimed at improving the regulation of epithelial ion transport by mutant CFTRs in a mutation-specific fashion. The grouping of CFTR gene mutations, according to mechanism of dysfunction, yields some guidance as to which pharmacologic repair agents may be useful for specific CFTR mutations. Recent data has suggested that combinations of pharmacologic repair agents may be necessary to obtain clinically meaningful CFTR repair. Nevertheless, such strategies to improve mutant CFTR function hold great promise for the development of novel therapies aimed at correcting the underlying pathophysiology of CF.

The use of trade names is for product identification purposes only and does not imply endorsement.

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Title: Targeted Therapy for Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator Mutation-Specific Pharmacologic Strategies
Author: Dr Ronald C. Rubenstein
Publication date: 01-09-2006
Publisher: Springer International Publishing
Published in: Molecular Diagnosis & Therapy / Issue 5/2006
Print ISSN: 1177-1062
Electronic ISSN: 1179-2000
DOI: https://doi.org/10.1007/BF03256204

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Cystic Fibrosis Transmembrane Conductance Regulator Mutation-Specific Pharmacologic Strategies

Abstract

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