Science / Medicine : Key Clue to Cystic Fibrosis

The precise function of the defective protein that causes cystic fibrosis, the most common lethal genetic defect in the United states, has been discovered by a team of researchers from Genzyme Corp. in Cambridge, Mass., and the University of Iowa. As researchers have long suspected, the protein, called cystic fibrosis transmembrane regulator or CFTR, forms a channel or “hole” in the membranes of cells to allow chloride ions to pass in and out.

One in every 1,800 children suffers from the disease, which is marked by buildup of mucus in the lungs that impairs breathing and leaves the victims susceptible to respiratory infections. The disorder also impairs the ability of most victims to absorb and digest fats in the diet.

The unraveling of the protein’s function, reported in this month’s issue of Molecular and Cellular Biology and two recent issues of Science, “is essential for the development of new therapies,” said molecular biologist Alan E. Smith of Genzyme.