Correction of genetic defects using chemical chaperones

摘要

The present invention provides methods of improving phenotypic defects that are caused by conformationally defective target proteins. The methods of the invention comprise exposing a cell that expresses a conformationally defective target protein with an amount of a protein stabilizing agent that is effective to improve the phenotypic defect. Nonlimiting examples of protein stabilizing agents include dimethylsulfoxide (DMSO), deuterated water, trimethylamine N-oxide (TMAO). Nonlimiting examples of defective target proteins to be treated include the cystic fibrosis transmembrane conductance regulator (CFTR) protein and prion proteins. In one embodiment, the invention provides methods for detecting protein stabilizing agents. In another embodiment, the invention provides methods for detecting cells and pathological conditions caused by improper folding and protein processing.