Cystic fibrosis splicing experiments offer hope for improved treatments

CHAPEL HILL -- Although not yet ready to try their new technique in patients, University of North Carolina at Chapel Hill scientists have successfully repaired a genetic problem that accounts for a form of cystic fibrosis commonly seen in patients of European Jewish descent.

Drs. Kenneth Friedman, research fellow in pathology and laboratory medicine, and Ryszard Kole, professor of pharmacology, at the UNC-CH School of Medicine developed the method to correct a mutation involving unnecessary information inside a gene. When that gene is imperfect, cystic fibrosis results.

The two conducted the research in collaboration with Drs. Lawrence Silverman and Michael Knowles at UNC-CH and Dr. Jonathan Cohn and technician Jolanta Kole at Duke University.

"This work builds on a strategy first explored by Dr. Kole in his studies of beta-thalassemia, a genetic disease often seen in Mediterranean and some Asian countries and involving defective hemoglobin molecules that lead to red blood cell destruction in bone marrow," Friedman said. "We applied his method to a cystic fibrosis gene mutation discovered here at UNC-CH in 1991 and given the somewhat arcane name 3849+10kbC>T."

That mutation results in a milder-than-most, but still debilitating, form of the illness and many years of chronic lung problems, he said. Cystic fibrosis, the most common lethal inherited disease among whites, is a complicated and highly variable condition resulting from errors in the gene controlling salt and water balance in the lungs and other tissues.

A report on their work appears in the Dec. 17 issue of the Journal of Biological Chemistry.

"We first genetically engineered healthy cells in laboratory culture to carry a version of this mutation, and, as expected, messenger RNA production in these cells was abnormal," Friedman said. "We then explored whether the effects of this mutation could be overcome by administration of pharmacological agents collectively known

Contact: David Williamson
University of North Carolina at Chapel Hill

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