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Probing the basic defect in cystic fibrosis.

¹Hospital for Sick Children, University of Toronto, Ontario, Canada.

Current Opinion in Genetics & Development

|June 1, 1991

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Cystic fibrosis research advanced with electrophysiology and CFTR gene identification. The cystic fibrosis transmembrane conductance regulator (CFTR) protein functions as a cAMP-regulated chloride channel, clarifying the disease's cellular defect.

Area of Science:

Molecular Biology
Genetics
Physiology

Background:

Cystic fibrosis (CF) is a genetic disorder with a poorly understood cellular defect.
Advances in electrophysiology and gene identification offer new research avenues.

Purpose of the Study:

To investigate the cellular defect in cystic fibrosis.
To characterize the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

Main Methods:

Electrophysiology studies
Gene sequencing and identification of the CFTR gene
Analysis of CFTR mutations and genotype-phenotype correlations
DNA transfection studies

Main Results:

Related Experiment Videos

The CFTR gene was identified.

Properties of the CFTR protein were deduced from sequence, mutations, and transfection studies.

CFTR was found to function as a cAMP-regulated chloride channel.

Conclusions:

The identification of the CFTR gene and its function as a chloride channel provides critical insight into the basic cellular defect in cystic fibrosis.
This discovery opens avenues for understanding genotype-phenotype correlations and developing targeted therapies.