Cystic Fibrosis Gene and Protein Identified

By Fackelmann, K. A. | Science News, September 2, 1989 | Go to article overview

Cystic Fibrosis Gene and Protein Identified


Fackelmann, K. A., Science News


Cystic fibrosis gene and protein identified

After years of searching through DNA strands, a U.S.-Canadian research team has located the defective gene causing cystic fibrosis and has isolated its protein product. The finding might ultimately lead to new treatments and better genetic counseling for this devastating genetic disorder, which strikes one in every 2,000 white children in the United States.

"There has been an enormous bottle-neck in the understanding of cystic fibrosis, and that has been the failure to identify the gene," Francis S. Collins of the University of Michigan in Ann Arbor said last week at a press confrence in Washington, D.C. Collins and colleagues Lap-Chee Tsui and Jack R. Riordan of the University of Toronto will publish three scientific papers describing the mutant gene's exact location and protein product in the Sept. 8 SCIENCE.

"There is still a tremendous amount of work to do, but this is a major step forward," says Judith E. Fradkin of the National Institute of Diabetes and Digestive and Kidney Diseases.

Tsui narrowed the search to chromosome 7 in 1985, and the collaboration with Collins yielded a faster method of scanning DNA, enabling the tem to pinpoint the faulty gene in March. There they found a mutation resulting in a flawed protein that cause most, though not all, cystic fibrosis cases. The mutant gene's blueprint directs cells to produce a protein missing an amino acid called phenylalanine. "This error somehow changes the ability of the protein to work correctly in the cell," Collins says.

The protein belongs to a class of compounds normally involved in transporting ions, such as sodium and chloride, across cell membranes. Scientists believe cystic fibrosis patients have difficulty moving salt and water in and out of cells, leading to the secretion of thick mucus that clogs airways and leaves patients vulnerable to chronic lung infections.

Riordan says the work may eventually yield drugs that correct the flawed protein's action, thus alleviating the symptoms of cystic fibrosis. But before researchers can look for drugs to compensate for the defect, they must learn precisely how the flawed protein causes the disease, he adds. …

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