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When scientists research cystic fibrosis, they focus on how genetic mutations can lead to disease symptoms. Over 1,000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can create problems transporting chloride in cells. Understanding how abnormal chloride transport leads to the problems or symptoms of CF is the job basic scientists at Hopkins. The CFTR gene, which encodes a chloride channel on the surface of specific cells and a protein by same name, is under constant research. New functions of the CFTR protein are discovered on a regular basis as Hopkins scientists continue to search for better drugs and gene therapies. | | Cystic fibrosis is caused by mutations in the CFTR gene, which encodes a chloride channel located on the surface of certain epithelial cells. |
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