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Fix Two Defects to Combat Cystic Fibrosis, McGill University Study


3/13/2012 7:15:01 AM

To restore normal function to the mutant gene product responsible for cystic fibrosis (CF), two distinct structural defects must be corrected, new research shows. The finding, published in the journal Cell, could lead to more effective therapeutic strategies for CF in the future. CF is a fatal genetic disease that affects about 60,000 people worldwide. It is caused by mutations in a membrane protein involved in ion and water transport across the cell surface, the cystic fibrosis transmembrane conductance regulator (CFTR). As such, it is characterized by impaired chloride secretion causing the accumulation of viscous mucous that may cause multiple organ dysfunctions, including recurrent lung infection.

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