Cystic fibrosis is a genetic disorder that affects ion transport, leading to thick mucus accumulation in organs, causing various symptoms. Understanding the cause, pathophysiology, and symptoms provides insight into the importance of membrane proteins like CFTR.
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to a defective ion channel protein. This protein dysfunction results in thick and sticky mucus accumulation in various organs such as lungs, pancreas, and intestine, causing respiratory infections, poor growth, and other symptoms.
The pathophysiology of CF involves impaired salt transfer due to faulty CFTR protein, resulting in abnormally thick mucus that obstructs airways and organs. This leads to respiratory issues, digestive problems, and other complications.
By understanding CF at the cellular level, students can learn about the importance of membrane proteins like CFTR in maintaining ion balance and preventing diseases like CF when functioning properly.
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