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Thursday, May 23, 2013
Genetic component of cystic fibrosis
Is the genetic component of cf ever beneficial? If so, how? Thank you.
The CF gene is responsible for producing a protein, cystic fibrosis transmembrane conductance regulator (CFTR). People who carry only 1 copy of abnormal CFTR are heterozygotes, or "carriers", have no symptoms of CF. Patients with CF have 2 defective copies of the CFTR gene.
The fact that this disease is common in Caucasian populations suggests that there may be a "heterozygote advantage" to the CF mutation. It has been proposed that CF heterozygotes may be protected from the secretory diarrhea caused by cholera toxin. Although this hypothesis has not been fully proven, studies in the mouse model do support the idea.
Patricia Joseph, MS, MD
Associate Professor of Medicine
College of Medicine
University of Cincinnati