Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is anABC transporter that allows passage of chloride ions across theplasma membranes of epithelial cells. Mutations in the gene forCSTR cause a decrease in fluid and salt secretion by CFTR andresult in cystic fibrosis. In 70% cases of the disease, themutation is a deletion of a Phe residue at position 508. The mutantprotein folds incorrectly, which interferes with its insertion inthe plasma membrane, and as a consequence, the movement of chlorideions across the membranes is impaired. Malfunctioning CFTR resultsin blocked and heavy secretion from the exocrine glands (pancreas,sweat glands, bile ducts and vase deferens). Cystic fibrosispatients produce dehydrated mucus that accumulates in the lungs andleads to chronic infections that damage the lungs. Respiratoryfailure is commonly the cause of death in people with cysticfibrosis.
In this discussion, explain a genetic disease that youhave investigated upon. Describe the genetic defect [specificallywhich protein is involved] and how it affects the body’s metabolismand physiology. (PLEASE TYPE 250-300 WORDS & INCLUDE 1 - 2SOURCES, NO DIAGRAMS)
