Receptor redemption: skirting gene therapy to correct genetic defects.(Research)

Gene therapy has been a major focus for research into treating a number of diseases caused by receptor protein mutations. But a potentially more direct therapy is emerging with the discovery of small molecules that restore correct function to mutant receptor proteins, without attempting to change the primary sequence.

"This is going to be an important area for drug development," says Robert Dresnick, professor and chairman of human genetics at the Mount Sinai School of Medicine in New York. Such intervention works only for mutations that do not cause fundamental damage to the receptor binding site. Recent research shows, however, that many disease-causing mutations in receptor proteins merely cause the protein to misfold and do not undermine binding potential. …