journal article #3
Öykü Penceresi Metni
- Cystic Fibrosis is a genetic disease that causes thick secretions to accumulate in airways, digestive organs, and sperm ducts.
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- CFTR= cystic fibrosis transmembrane conductance regulator
- The key defect in cystic fibrosis is the loss of the chloride conductance, but mutation of the cystic fibrosis gene, the CFTR has many effects on cell physiology
- Loss of conductance through the chloride channel reduces fluid secretion leads to
- The loss of the epithelial chloride conductance and some of the symptoms of cystic fibrosis can be explained by...
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- airway obstruction by condensed macromolecules; salt absorption is also compromised in some tissues
- How does loss of CFTR cause cystic fibrosis??
- The CFTR may transport ATP and bicarbonate ions, CFTR can also affect other membrane molecules> could trigger complex downstream events.
- This leads to cells that line the passages of lungs and other organs to produce mucus that is unusually thick .
- Meaning- mutations in the CFTR gene disrupt the function of chloride channels. Prevents them from regulating the flow of chloride ions and water across the cell membrane.
- Also studies of cystic fibrosis by gene targeting along with genotype/phenotype analysis of cystic fibrosis patients> evidence that the loss of the CFTR is primarily responsible for cystic fibrosis disease!
- So cool and interesting!!!!!
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