Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the
cystic fibrosis transmembrane regulator (CFTR) gene and is the most common life-shortening
genetic defect in Caucasians. Life expectancy in CF has improved substantially over
the last 75 years because of treatments aimed at end-organ complications. Since the
CFTR gene was discovered in 1989 more than 1900 mutations have been reported to cause
CF and significant effort has been put forth into gene therapy to find a mutation
independent “cure” for CF. Gene-based approaches have not yet led to a viable therapy
but have provided insights into hurdles that limit the efficacy of gene therapy. This
review will address the nomenclature of CFTR mutations, attempts at viral and nonviral
gene therapy, and recent advances in mutation-specific molecules.
Abbreviations:
AAV (adeno-associated viruses), AAV2 (adeno-associated vector 2), CAR (coxsackie-adenovirus receptor), CF (cystic fibrosis), CFTR (cystic fibrosis transmembrane regulator), FEV1 (forced expiratory volume in 1 s), NPD (nasal potential differences), PTC (premature termination codon), RNA (mRNA messenger)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: December 28, 2012
Accepted:
December 1,
2012
Received in revised form:
November 29,
2012
Received:
October 24,
2012
Footnotes
Conflict of interest: All authors have read the journal’s policy on conflicts of interest and have none to declare.
Identification
Copyright
© 2013 Mosby, Inc. Published by Elsevier Inc. All rights reserved.
