Cystic fibrosis transmembrane regulator protein mutations: 'Class' opportunity for novel drug innovation

Kelvin D. MacDonald, Karen R. McKenzie, Pamela L. Zeitlin

Research output: Contribution to journalReview articlepeer-review

35 Scopus citations


Cystic fibrosis (CF) is the most common autosomal, recessive, life-span shortening disease in Caucasians. Since discovery of the gene for CF (cystic fibrosis transmembrane conductance regulator [CFTR]) in 1989, knowledge of the molecular function of this gene and its interactions has offered new therapeutic targets. New therapeutics aimed at improving mutant CFTR protein function, also known as 'protein repair therapy,' have been proposed but are yet to be successful in clinical trials. Some of the most exciting efforts involve a new field known as small molecule discovery, which entails the identification, evaluation, and optimization of small organic compounds that can alter the function of a selected gene target or cell phenotype. More than 1300 CFTR mutations have been identified. Many of the more common mutations have been organized into five broad classes based on the fate of the mutant CFTR protein. In each of these mutation classes, interventions have been able to restore some level of CFTR function in vitro. While these 'repairs' have yet to be demonstrated clinically, some early clinical trials are underway. Questions regarding the amount of CFTR correction needed, delivery methods, and optimal therapeutic combinations, however, remain outstanding.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalPediatric Drugs
Issue number1
StatePublished - 2007
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pharmacology (medical)


Dive into the research topics of 'Cystic fibrosis transmembrane regulator protein mutations: 'Class' opportunity for novel drug innovation'. Together they form a unique fingerprint.

Cite this