What are the levels of protein structure for the Cystic Fibrosis
Transmembrane conductance regulator? Including primary,...
What are the levels of protein structure for the Cystic Fibrosis
Transmembrane conductance regulator? Including primary, secondary,
tertiary, and quaternary.
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,...
Cystic fibrosis is an autosomal recessive genetic disorder
resulting from the absence of a functional transmembrane
conductance regulator (CFTR) protein. A woman whose older sister
has a son with the disorder is concerned that she will also have a
child with cystic fibrosis. The woman’s husband is healthy but he
had a paternal uncle who died of cystic fibrosis as a teenager.
A. Based on the information given above, draw a
pedigree for the couple and the extended families...
Why does the primary structure impact all levels of protein
structure? What is unique about the peptide bond that directly
impacts protein structure? What intermolecular forces stabilize
protein structure? Consider protein denaturation, what
environmental forces can cause a protein to lose its structure?
What types of interactions are they disrupting? Many proteins
require chaperones to properly fold. How do chaperones help
proteins fold? What potential problems might arise from a misfolded
protein? (An example from the text may be useful...
Cystic Fibrosis is a disease caused by a defect in a Chloride
ion transport channel protein. The channel performs a critical
function in the lungs; thus, disease sufferers have trouble
clearing mucous from their lungs, leaving them susceptible to
opportunistic infections.
Discuss how this protein may function (normally) in the lung
& hypothesize on possible treatment schemes.
1. In cystic fibrosis one amino acid is missing in the CFTR
protein. Explain why this mutant protein will not end up in the
plasma membrane. (You may need to investigate the normal function
of this CFTR gene)
2. Why might a mutation in the DNA NOT lead to an abnormally
functioning protein?
3. Describe one genetic disorder in which a gene is mutated and
leads to abnormal protein folding ( other than Huntington’s). In
“your disorder”, name the gene...
explain how the three-dimensional structure of a cytosolic protein
differs from a transmembrane protein in terms of the amino acid
distribution and folding.
What is the structure of the haemoglobin protein? (please break
down to primary structure, secondary structure, tertiary structure,
and quaternary stucture (if it has one).