Question

Cell Biology Short Answer Question (250-300 words): Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is an ABC transporter that allows passage of chloride ions across the plasma membranes of epithelial cells. Mutations in the gene for CSTR cause a decrease in fluid and salt secretion by CFTR and result in cystic fibrosis. In 70% cases of the disease, the mutation is a deletion of a Phe residue at position 508. The mutant protein folds incorrectly, which interferes with its insertion in the plasma membrane, and as a consequence, the movement of chloride ions across the membranes is impaired. Malfunctioning CFTR results in blocked and heavy secretion from the exocrine glands (pancreas, sweat glands, bile ducts and vase deferens). Cystic fibrosis patients produce dehydrated mucus that accumulates in the lungs and leads to chronic infections that damage the lungs. Respiratory failure is commonly the cause of death in people with cystic fibrosis.

Explain a genetic disease that you have investigated upon. Describe the genetic defect [specifically which protein is involved] and how it affects the body’s metabolism and physiology. (PLEASE TYPE & INCLUDE 1 - 2 SOURCES, NO DIAGRAMS)

Answer 1

The disease which results due to such condition is cystic fibrosis ..CFTR gene produce " Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein ..and when phe amino acid of position get mutated ...this protein will misbehave and result in imbalance of secretion ..

In mutation phe residue get delete ..so protein structure imbalance and proper folding does not take place in it ..and imbalnce in chloride ion across membrane result in choking if organs due to mucous ..

Ref :cell biology by cooper